Encodes collagen type iv. Medical search. Frequent questions

COL4A1 encodes the α1 chain of type IV collagen, which consists of six types of α chains and forms the basic framework of the basement membrane. (nature.com)
X linked Alport syndrome (ATS, OMIM 301050) is a hereditary glomerulonephritis resulting from either point mutations or intragenic deletions of the COL4A5 gene encoding the α5 chain of type IV collagen. (bmj.com)
Alport syndrome is a nephritic syndrome caused by a mutation in the COL4A3 , COL4A4 , and COL4A5 genes that encode the alpha-5 chain of type IV collagen and results in altered type IV collagen strands. (msdmanuals.com)

The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. (wikipedia.org)
No specific or efficient treatment exists for Alport syndrome, an X-linked hereditary disease caused by mutations in collagen type IV, a crucial component of the glomerular basement membrane. (hindawi.com)
It is due to different mutations in collagen IV [ 1 ]. (hindawi.com)
We previously described a group of patients initially classified with OI type IV who had a discrete phenotype including hyperplastic callus formation without evidence of mutations in type I collagen. (wiley.com)
Mutation screening of the coding regions and exon/intron boundaries of both collagen type I genes did not reveal any mutations, and type I collagen protein analyses were normal. (wiley.com)
In humans, mutations in different collagen genes are responsible for a wide variety of inherited disorders. (equiseq.com)
The phenotype produced by mutations in different collagens gives us an insight into the role of each of these collagens. (equiseq.com)
Note the flat face, narrow thorax, short limbs (A) with hip dislocation , hyperlaxity of fingers (B), and deviation of toes (C). Figure 2 Radiological Features of Two DBQD Type 2 Subjects with XYLT1 Mutations (A) Subject 1 (family 1) at 8 months. (symptoma.com)
In the study, " Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes , " researchers identified three new mutations in the COL4A4 gene that were linked to three types of kidney disease. (alportsyndromenews.com)
A team led by researchers at Nanjing University School of Medicine reviewed three cases of collagen type IV kidney disease caused by COL4A4 mutations. (alportsyndromenews.com)
Mutations in COL4A1, encoding one of the six collagen type IV proteins, cover a wide spectrum of autosomal dominant overlapping phenotypes including porencephaly, small-vessel disease and hemorrhagic stroke, leukoencephalopathy, hereditary angiopathy with nephropathy, aneurysms and muscle cramp (HANAC) syndrome, and Walker-Warburg syndrome. (gouldsyndromefoundation.org)
Alport syndrome is an inherited disease characterized by a progressive loss of kidney function, hearing loss and eye abnormalities, and is caused by genetic mutations affecting the type IV collagen family of proteins in basement membranes. (wustl.edu)
Pierson syndrome is a rare congenital nephrotic syndrome with diffuse mesangial sclerosis as well as eye and neurologic abnormalities caused by mutations in the LAMB2 gene that encodes laminin b2, a component of the GBM laminin a5b2g1 heterotrimer. (wustl.edu)
Marfan syndrome, supravalvular aortic stenosis, and Ehlers-Danlos syndrome type IV result from mutations of genes encoding fibrillin-1, elastin, and type III collagen, respectively. (heartviews.org)
Familial hypertrophic cardiomyopathy is caused by mutations of genes encoding cardiac sarcomeric proteins. (heartviews.org)
Within the past few years, novel mutations in the human P3H1 gene and genes encoding P3H1-associated proteins were shown to cause reces- sive forms of osteogenesis imperfecta (8 -11). (documents.pub)
Mutations in both the α1(II) and α1(XI) collagen chains have been shown to be responsible for this syndrome. (aao.org)
As mentioned earlier in this chapter, these patients have mutations in the VCAN gene, encoding versican, which participates in formation of the vitreous gel. (aao.org)
Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. (antikoerper-online.de)
Most cases of Stickler syndrome are due to autosomal-dominant COL2A1 gene mutations leading to abnormal type II collagen. (mdpi.com)
Cystic fibrosis (CF) is a lethal inherited disorder caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) in airway epithelial cells 1 . (ersjournals.com)

These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. (wikipedia.org)
Comparison with two other deletions extending beyond COL4A5 in the telomeric direction and generating only ATS allowed us to define the critical region for mental retardation (MR), which contains four candidate genes. (bmj.com)
In approximately 90% of cases, OI is caused by monoallelic variants in the COL1A1 and COL1A2 genes (17q21.33 and 7q21.3) encoding the alpha1 and alpha2 chains of type 1 collagen. (orpha.net)
Most patients diagnosed with OI have a mutation in one of the two genes, COL1A1 or COL1A2, which encode type 1 collagen, the main protein found in bone [ 4 ]. (clinmedjournals.org)
There are thirty types of collagen, made up of collagen proteins encoded by 44 different genes. (equiseq.com)
Genomic database analyses indicate the presence of three isoenzymes in the vertebrate prolyl 3-hydroxylase family, P3H1, P3H2, and P3H3, encoded by the genes LEPRE1 , LEP- REL1 , and LEPREL2 , respectively, in humans (15). (documents.pub)
SPARC (secreted protein,acidic and rich in cysteine) is a matricellular glycoprotein that regulates cell-cell and cell-matrix interactions, cellular proliferation and differentiation, and the expression of genes encoding extracellular matrix components. (silverchair.com)
The effects of corticosteroids are predominantly mediated by the inhibition of NF-κB deoxyribonucleic acid (DNA)-binding activity, which controls genes encoding inflammatory cytokines, chemokines and adhesion molecules in respiratory epithelial cells 10 - 13 . (ersjournals.com)

Genetic variants of the gene that encodes collagen type IV (COL4) protein have been associated with several familial kidney diseases, including thin basement membrane nephropathy (TBMN), autosomal dominant Alport syndrome (ADAS), and focal segmental glomerulosclerosis (FSGS). (alportsyndromenews.com)
The disease is caused by defects in the gene that encodes the synthesis of collagen III (COL3A1 gene). (your-doctor.net)

Moreover, 2 adhesive surface proteins were discovered and their nucleotide sequence encoded. (medscape.com)
The proteins are named RspA and RspB and serve in helping the microorganism bind to biotic (collagen types I and IV) and abiotic (polystyrene) surfaces. (medscape.com)
Collagens are a family of proteins that are the main structural components of the connective tissue. (equiseq.com)
Other than water, the mesoglea is composed of several substances including fibrous proteins like collagen and heparan sulphate proteoglycans. (pearltrees.com)

This finding suggested an abnormality in type IV collagen, against which the anti-GBM antibodies are directed. (abcmedicalnotes.com)
Epidermolysis bullosa acquisita is caused by antibodies targeting type VII collagen, the major component of anchoring fibrils that connect the basement membrane to dermal structures. (medscape.com)
[ 4 ] These antibodies compromise the strength of the basement membrane zone, leading to skin fragility and trauma-induced blister formation. (medscape.com)
Various murine models have contributed to the understanding of the pathogenic role of antitype VII collagen antibodies and pathophysiology of epidermolysis bullosa acquisita. (medscape.com)
Initial studies demonstrated that rabbit antimouse type VII collagen antibodies, as well as rabbit antibodies raised against human recombinant protein type VII collagen, were able to induce blisters in mice. (medscape.com)
[ 7 ] The failure of rabbit antimouse type VII collagen antibodies to induce blisters in C5-deficient mice supports a role for complement activation in the disease pathogenesis. (medscape.com)
Several groups have developed tests based on specific antibodies that are raised against isolated collagen peptides that contain cross-links, as opposed to using the cross-links themselves. (medscape.com)
Results: Osteonectin and BMP2/4 antibodies were positive in all cases. (bvsalud.org)

The phenotypic spectrum of COL4A1 -related disorders has been expanding, and accumulating data have shown that extracerebral hemorrhages may also occur 4 . (nature.com)

This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. (antikoerper-online.de)

Collagen alpha-3(IV) chain is a protein that in humans is encoded by the COL4A3 gene. (wikipedia.org)

In Goodpasture's syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. (wikipedia.org)
This gene encodes the major type IV alpha collagen chain of basement membranes. (antibodies-online.com)

Type V is characterized by mild to moderate short stature, metaphyseal dysplasia at birth, dislocation of the radial head, mineralized interosseous membranes of the forearm and lower leg, hyperplastic callus (particularly when growth is more rapid e.g. during infancy or puberty), white sclera, and no DI. (orpha.net)

4, 5 Until recently, the only known contiguous gene syndrome involving the COL4A5 gene was Alport syndrome and diffuse leiomyomatosis (ATS-DL, OMIM 308940), 6- 9 in which the deletion extends towards the centromere to include the first two exons of the adjacent COL4A6 gene. (bmj.com)

The protein encoded by this gene is a gelatinase A, type IV collagenase, that contains three fibronectin type II repeats in its catalytic site that allow binding of denatured type IV and V collagen and elastin. (dimabio.cn)
The protein encoded by this gene serves as a receptor for thrombospondin in platelets and various cell lines, and is the fourth major glycoprotein of the platelet surface. (thermofisher.com)

The sites in clade A fibrillar 1(II), 2(V), and 1(I) collagen chains share common features with known prolyl 3-hydroxylase 2 (P3H2) substrate sites in 1(IV) chains imply- ing a role for this enzyme. (documents.pub)

A subset of patients have variations in which either IgG autoantibodies bind the central triple-helical collagenous (NC2) domain of type VII collagen, or immunoglobulin A (IgA), rather than IgG, targets type VII collagen. (medscape.com)

It consists of three different collagen molecules wrapped around each other in a helical fashion as shown in Figure 2. (equiseq.com)
The term "oncotarget" encompasses all molecules, pathways, cellular functions, cell types, and even tissues that can be viewed as targets relevant to cancer as well as other diseases. (oncotarget.com)
We have analyzed the immunohistochemical expression of three molecules involved in bone metabolism, namely osteonectin, TGF-1, and BMP2/4. (bvsalud.org)

The diagnosis of Ehlers Danlos syndrome classic type is established by family history and clinical examination. (clinlabnavigator.com)
Quantitative and qualitative studies of type V collagen chains are usually not useful in confirming a diagnosis. (clinlabnavigator.com)
The diagnosis of psoriasis is clinical, and the type of psoriasis present affects the physical examination findings. (medscape.com)

A long range deletion map was constructed using available X chromosome YAC contigs and the DNA of the proband of family 1, hybrid 1C3 derived from the mother of family 2, and patients 3 and 4. (bmj.com)

13) observed a small destabilizing effect of 3Hyp on the collagen triple helix formed by synthetic peptides, but more recently, further studies revised this to a slight increase in stability (14). (documents.pub)

Type IV collagen consists of six different α-chains that interact to form three different heterotrimers (α1α1α2, α3α4α5, and α5α5α6) (Warady et al. (researchsquare.com)

It is caused by a qualitative or quantitative defect of type 1 collagen, synthesized by osteoblasts [ 1 , 2 ]. (clinmedjournals.org)

These variants can cause types I-IV of OI. (orpha.net)
Alternative splicing results in multiple transcript variants encoding different isoforms. (dimabio.cn)

Ehlers Danlos syndrome, classic type, is inherited in an autosomal dominant manner. (clinlabnavigator.com)

The α-5 (IV) chain of collagen is 1,685 amino acids in length and is expressed at 225 locations in the human glomerular basement membrane, retinal pigment layer, main visual cortex, and cochlea. (researchsquare.com)
The portion of the collagen molecule that participates in triple helix formation is made up of a repetitious sequence of amino acids with the general sequence Gly-X-Y. Every third residue is a glycine. (equiseq.com)
The monomer contains an N-terminal region of no known homology and six thrombospondin type 1 repeats (TSRs) of approximately 60 amino acids. (embl.de)

The COL6A3 gene encodes one of the type VI collagens that are components of the endomysium, a layer of connective tissue that covers individual muscle fibers. (equiseq.com)
Stickler syndrome is most commonly due to a mutation in the gene COL2A1, which codes for type II collagen, a major component of vitreous collagen fibers. (aao.org)
The mesohyl includes a noncellular colloidal mesoglea with embedded collagen fibers, spicules and various cells, being as such a type of mesenchyme. (pearltrees.com)

Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. (antikoerper-online.de)

These are formed during extracellular maturation of fibrillar collagens and are released when mature collagens degrade. (medscape.com)

The extent of these four deletions was compared with a previously reported deletion present in patient 5, diagnosed with ATS-DL. (bmj.com)

CONCLUSION: Our patient had a later onset form of Pierson syndrome or "FSGS type 5, with or without ocular abnormalities," consistent with his "milder" LAMB2 missense variant. (bvsalud.org)
We propose that the TBMN, ADAS, and FSGS collagen type IV kidney disease subtypes actually represent different phases of disease progression," the researchers said. (alportsyndromenews.com)

Urinary podocyte loss is a silent phenomenon that precedes proteinuria in glomerular diseases [ 3 , 4 ]. (hindawi.com)
Estimated glomerular filtration rate (eGFR), urinary sodium and serum AGT negatively correlated with urinary AGT.Multiple regression analysis indicated that low serum AGT, high urinary protein, urinary Ang II and urinary Col IV correlated significantly with high urinary AGT. (uwi.edu)

Thrombospondin 1, abbreviated as THBS1, is a protein that in humans is encoded by the THBS1 gene. (pearltrees.com)
An enzyme that in humans encoded by the TPP1 gene. (bvsalud.org)

The enzyme encoded by this gene degrades type IV and V collagens. (antibodies-online.com)
The P3H1 enzyme there- fore is required for the 3-hydroxylation of Pro-986 in the 1(I) chain of type I collagen (8, 10). (documents.pub)
[ 7 ] and cross-linked N-terminal telopeptide (NTX) of type 1 collagen by enzyme-linked immunosorbent assay (ELISA) technique (NTX, Osteomark). (medscape.com)

In canine epidermolysis bullosa acquisita, the immunoglobulin G (IgG) autoantibodies also target the type VII collagen noncollagenous (NC1) domain, which shares greater than 80% homology in amino acid sequence with the human NC1 domain. (medscape.com)
[ 3 ] IgG autoantibodies specific for anchoring fibrils (type VII collagen) of the skin basement membrane have a heterogeneous subclass and light-chain composition, and their complement-activating capacities do not correlate with the inflammatory phenotype. (medscape.com)
[ 5 , 6 ] More recently, affinity-purified antitype VII collagen autoantibodies from epidermolysis bullosa acquisita patients have induced blisters in an adult hairless mouse strain (SKH1), further supporting a pathogenic role of antitype collagen VII autoantibodies. (medscape.com)
Induction of an active model of autoimmunity against type VII collagen in a hairless mouse strain (SKH1) revealed that regulatory T cells, which have been identified for their ability to inhibit the development of autoimmune diseases, do not inhibit the development of autoantibodies against the self-protein mouse-type VII collagen. (medscape.com)
Epidermolysis bullosa acquisita (EBA) is an autoimmune disease, manifested by autoantibodies that target type VII collagen, the major protein of anchoring fibrils and the one that connects the epithelial basement membrane to the dermis. (medscape.com)
Autoantibodies specific for type VII collagen alter the dermoepidermal junctional adhesion and lead to dermoepidermal separation. (medscape.com)

Collagen, the major structural protein of vertebrates has evolved a range of post-translational modifications that are essential for triple helix assembly and stability, intermolecular cross-linking, and strength of fibrils and tissue function. (documents.pub)
The major structural protein of basement membrane, collagen type IV, in the lens capsule was substantially altered in the absence of SPARC. (silverchair.com)

Degradation products that are derived from the enzymatic hydrolysis of type 1 collagen are therefore the most useful markers of bone resorption. (medscape.com)
Measurement of these markers does not depend on the degradation of newly synthesized collagens or dietary sources. (medscape.com)
It is involved in the degradation of bone collagen. (bvsalud.org)

Type I is mild and nondeforming with normal height or short stature, blue sclera, and no dentinogenesis imperfecta (DI). (orpha.net)
Some patients have impaired stature, as well as dentinogenesis imperfecta, blue sclera and ligament laxity, since type 1 collagen is also present in teeth, skin, tendons and sclera [ 1 ]. (clinmedjournals.org)

Immunization of type VII collagen in athymic nude SJL mice did not induce an autoimmune response, whereas the repletion of T cells from type VII collagen-immunized wild-type mice to the thymic mice showed autoantibody production and resulted in a blistering disease phenotype, supporting the role of T cells in the induction of epidermolysis bullosa acquisita. (medscape.com)

Characterization of mutant forms of recombinant human properdin lacking single thrombospondin type I repeats. (embl.de)

The most clinically relevant characteristic of all types of OI is bone fragility, which manifests as multiple spontaneous fractures. (orpha.net)
Types V, VI, and VII have recently been included, and although the defect is not in the collagen gene, they are also characterized by bone fragility [ 7 - 9 ]. (clinmedjournals.org)

Type 1 repeats in thrombospondin-1 bind and activate TGF-beta. (embl.de)

The severity of alleles of COL6A3 is correlated with their position in the collagen triple helix. (equiseq.com)
4) is equated in Table 4 for the eukaryotic three alleles. (scoutconnection.com)

It binds to collagen, thrombospondin, anionic phospholipids, and oxidized LDL, and directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes. (thermofisher.com)

The c.1249GNC (p.Gly417Arg) segregated in four subjects with variable neurological phenotypes, namely leukoencephalopathy with muscle symptoms, brain small-vessel disease, and mild infantile encephalopathy. (gouldsyndromefoundation.org)

Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. (orpha.net)
Patients with type IV have moderate short stature, variable severity of scoliosis, grayish or white sclera, and some have DI. (orpha.net)
We called that disease entity OI type V. In this study, we describe another group of 8 patients initially diagnosed with OI type IV who share unique, common characteristics. (wiley.com)
Patients with OI type VI sustained more frequent fractures than patients with OI type IV. (wiley.com)
Lumbar spine areal bone mineral density (aBMD) was low and similar to age-matched patients with OI type IV. (wiley.com)
Twenty-four patients answered the questionnaires. (clinmedjournals.org)
Patients with more severe forms (types III and IV) had lower scores than those with mild form (type I) in the physical domain of QoL. (clinmedjournals.org)
Presents all clinical features except the hand anomalies described for Type I. Kim Variant of Desbuquois Dysplasia DBQD: Described in seven patients originating from Korea and Japan. (symptoma.com)
Improved insights into the underlying features of each collagen type IV-associated disease may help enhance care and treatment of these patients. (alportsyndromenews.com)
By mass spec- trometry, we and other investigators have shown that Pro-986 in the 1(I) collagen chain of bone and skin from such patients can be severely under-3-hydroxyated. (documents.pub)
Matrix metalloproteinase is important in extracellular metabolism and increased expression of the gene encoding this has been seen in patients with thoracic aortic disease. (your-doctor.net)
IFM results in 185 patients were equivocal (54%), concordant (42%), and discordant (4%).LIMITATIONS: Retrospective design.CONCLUSION: Diagnostic testing has shifted in favor of genetic analysis. (stanfordchildrens.org)

Five clinically distinct types of osteogenesis imperfecta (OI) have been identified. (orpha.net)

Moreover, we observed positive correlation between urinary AGT and positive IHCS area of AGT, Ang II and Ang II Type 1 receptor inrenal tissue. (uwi.edu)
CD36, also known as scavenger receptor class B member 3, is a protein that is expressed on the surface of various cell types, including macrophages, platelets, and adipocytes. (thermofisher.com)

1992). "Exon/intron structure of the human alpha 3(IV) gene encompassing the Goodpasture antigen (alpha 3(IV)NC1). (wikipedia.org)

Since histological findings alone may be similar for lesions with diverse behavioral characteristics and prognosis, in the absence of good clinical and radiological information, the pathologist can only state that a given biopsy is consistent with a BFOL 1,2,3,4 . (bvsalud.org)

These disorders are the third most common type of kidney disease. (siemens-healthineers.com)
Three different kidney disease types caused by similar genetic alterations may actually represent different stages of disease progression, according to the authors of a study published in Cytogenetic and Genome Research . (alportsyndromenews.com)
Based on the clinical similarities of TBMN and ADAS, the researchers believe that "TBMN and ADAS may be different phases of collagen type IV kidney disease. (alportsyndromenews.com)

[ 8 ] NTX assay uses a monoclonal antibody directed against a urinary pool of collagen cross-links that is derived from a patient with Paget disease. (medscape.com)

Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. (wikipedia.org)
Prolyl 3-hydroxlase 1 (P3H1), 2 another member of the 2-oxo-glutarate-dependent dioxygenase family, catalyzes the post-translational 3-hydroxylation of certain proline residues in fibril-forming collagens. (documents.pub)

Anatomy38

Organisms7

Diseases15

Chemicals and Drugs97

Analytical, Diagnostic and Therapeutic Techniques and Equipment21

Phenomena and Processes31

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Chain of type IV colla3

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Genes8

Gene that encodes2

Proteins4

Antibodies8

COL4A11

Chains of type1

COL4A31

Basement membranes2

Membranes1

COL4A51

Protein encoded by this gene2

Prolyl 3-hydroxyla1

Triple helical1

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Autosomal dominant1

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FSGS2

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Humans2

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Autoantibodies6

Structural protein2

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Dentinogenesis imperfecta2

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Patients12

Osteogenesis imperfecta1

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Intron1

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