Deficiency atp binding cassette transporters. Medical search. Frequent questions

ATP-binding cassette transporters ABCA1 and ABCG1 primarily mediate the efflux of cholesterol from peripheral cells. (diabetesjournals.org)
LXRs also transcriptionally regulate the cholesterol efflux transporters ABCA1 and ABCG1, and deficiency of ABCA1 is associated with decreased body weight ( 18 ), while ABCG1 deficiency protects against diet-induced obesity ( 19 ). (diabetesjournals.org)
In agreement with the reduced preβ-HDL particles, cholesterol efflux capacity mediated by the transporters ABCA1 and ABCG1 was reduced in AD patients' plasma. (biomedcentral.com)

The initial and rate-limiting step of cholesterol efflux is the transport of cellular free cholesterol to high-density lipoprotein (HDL) by cholesterol transporters, of which the best characterized are the ATP binding cassette transporter (ABC) A1, ABCG1 and scavenger receptor BI (SR-BI) [ 12 ]. (biomedcentral.com)
PAP alveolar macrophages are foamy, lipid-filled cells with impaired surfactant clearance and markedly reduced expression of the transcription factor peroxisome proliferator-activated receptor gamma (PPARγ) and the PPARγ-regulated ATP binding cassette (ABC) lipid transporter, ABCG1. (ecu.edu)

Mutation occurring in ATP binding cassette transporter 1 (ABC1) which enables exit of cholesterol from the cell with resultant decrease in the levels of lipid-rich HDL-lipoprotein in the circulation decrease. (researchsquare.com)
We hypothesized, based on previous literature, that at least some ether lipid species readily enter endothelial cells of the barrier through the transporter MFSD2A but are re-exported by ATP-binding cassette (ABC) transporters. (amsterdamumc.org)
By crossbreeding Mdr1a-/-/Mdr1b-/-/Bcrp-/- and ether lipid-deficient Gnpat-/- mice as well as pharmacological inhibition with MK-571 to inactivate the major ABC transporters at the blood-brain barrier, we evaluated the potential of combined ABC transporter inhibition and oral batyl alcohol administration for the treatment of plasmalogen deficiency. (amsterdamumc.org)
We found that even in the absence of the most abundant ABC transporters, batyl alcohol supplementation did not restore plasmalogen levels in the brain, despite the presence of a wide spectrum of ether lipid subspecies in the plasma as demonstrated by lipidomic analysis. (amsterdamumc.org)
Surprisingly, batyl alcohol treatment of pregnant Gnpat+/- dams had beneficial effects on the plasmalogen levels of Gnpat-/- offspring with defective ether lipid biosynthesis, independently of ABC transporter status at the placental barrier. (amsterdamumc.org)
Yet, the findings suggest that alkylglycerol treatment during pregnancy may pose a viable option to ameliorate some of the severe developmental defects of inborn ether lipid deficiency. (amsterdamumc.org)
ABCA7 is homologous to a major lipid transporter ABCA1 and is highly expressed in neurons and microglia in the brain. (elsevierpure.com)
Here, we show that ABCA7 deficiency altered brain lipid profile and impaired memory in ABCA7 knock-out (Abca7 -/- ) mice. (elsevierpure.com)
These transporters promote unidirectional cholesterol efflux to lipid-poor apolipoprotein A-I (apoA-I), apoE, or HDL particles, respectively, and are under the transcriptional control of liver X receptors (LXRs), master intracellular sensors that are activated in response to cholesterol biosynthetic intermediates and oxysterols ( 11 , 12 ). (diabetesjournals.org)
ATP-binding cassette domain of the bacterial lipid flippase and related proteins, subfamily C. MsbA is an essential ABC transporter, closely related to eukaryotic MDR proteins. (umbc.edu)

Dr. Remaley's laboratory is now focused on how the ABCA1 transporter interacts with other intracellular proteins, as well as with extracellular cholesterol acceptor proteins, such as apoA-I, during the cholesterol efflux process. (nih.gov)
ABC transporters are a large family of proteins involved in the transport of a wide variety of different compounds, like sugars, ions, peptides, and more complex organic molecules. (umbc.edu)
ABC transporters are a subset of nucleotide hydrolases that contain a signature motif, Q-loop, and H-loop/switch region, in addition to, the Walker A motif/P-loop and Walker B motif commonly found in a number of ATP- and GTP-binding and hydrolyzing proteins. (umbc.edu)

The ABCA1 gene belongs to a group of genes called the ATP-binding cassette family. (medlineplus.gov)
Although mutations in APP, PS1, or PS2 cause early-onset familial AD, ABCA7 encoding ATP-binding cassette transporter A7 is one of the susceptibility genes for late-onset AD (LOAD), in which its loss-of-function variants increase the disease risk. (elsevierpure.com)
Rare cases are hereditary, caused by mutations in surfactant protein (SP-B and SP-C) and ATP-binding cassette transporter A3 ( ABCA3 ) genes. (msdmanuals.com)
In particular, with some exceptions such as olfactory receptors and genes involved in keratin production, transporter genes are significantly more heterogeneously expressed than are most non-transporter genes. (biorxiv.org)
The discovery of the antioxidant response element (ARE) have led to the conclusion that the battery of genes, including glutamate-cysteine ligase (GCL), thioredoxin reductase 1 (Txnrd1), NAD(P)H-quinone oxidoreductase 1 (NQO1) and heme oxygenase-1 (HMOX1) is regulated through Nrf2 binding to this consensus binding sequence [ 3 ]. (springer.com)

While one copy of the altered ABCA1 gene causes familial HDL deficiency, two copies of the altered gene cause a more severe disorder called Tangier disease (described below). (medlineplus.gov)
Tangier disease, a rare genetic disorder characterized decades ago by Dr. Donald S. Frederickson at the NIH, is defective in the ABCA1 transporter and provided an early clue to the importance of the reverse cholesterol transport pathway. (nih.gov)
The etiology of HDL deficiencies ranges from secondary causes, such as smoking, to specific genetic mutations, such as Tangier disease and fish-eye disease. (medscape.com)
However, extreme HDL deficiencies caused by rare autosomal recessive disorders, including familial hypoalphalipoproteinemia (HA), familial lecithin-cholesterol acetyltransferase (LCAT) deficiency, and Tangier disease, do not always correlate with more frequent CHD. (medscape.com)

Recent studies have demonstrated that ATP-binding cassette protein A1 (ABCA1) is highly regulated in macrophages and mediates the efflux of cholesterol and phospholipids to apolipoproteins, a process necessary for HDL formation. (jci.org)
Most ABCA1 gene variants that cause familial HDL deficiency change single protein building blocks (amino acids) in the ABCA1 protein. (medlineplus.gov)
Interestingly, ABCA7 deletion facilitated the processing of APP to Aβ by increasing the levels of β-site APP cleaving enzyme 1 (BACE1) and sterol regulatory element-binding protein 2 (SREBP2) in primary neurons and mouse brains. (elsevierpure.com)
Mutations in the ABCD1 gene affect the function of the encoded protein ALDP, an ATP-binding-cassette (ABC) transporter located in the peroxisomal membrane protein. (omeka.net)
An ATP-BINDING CASSETTE TRANSPORTERS subfamily protein that is localized on the canalicular membrane of HEPATOCYTES, as well as on the apical membrane of EPITHELIAL CELLS of the DUODENUM, JEJUNUM and PROXIMAL RENAL TUBULE. (bvsalud.org)
Nrf2 consists of six functional Neh domains (Neh1-Neh6), from which, the amino-terminal Neh2 domain controls binding Keap1-the inhibitor protein Kelch-like ECH-associated protein 1, that is responsible for the cytosolic sequestration of Nrf2 under physiological conditions (Fig. 2 a). (springer.com)
Background: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. (eurospe.org)

We analyse two comprehensive transcriptome datasets from human tissues and human-derived cell lines in terms of the expression profiles of the SLC and ABC families of membrane transporters. (biorxiv.org)

An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). (uchicago.edu)

Cholesterol efflux capacity, especially ATP binding cassette transporter A1 (ABCA1) dependent capacity, has been proposed to be a likely mediator of arterial stiffness. (biomedcentral.com)

Key biliary cholesterol transporters ABCG5 and ABCG8 were identified as direct targets of miRNA-223. (ijbs.com)

Respiratory distress syndrome is caused by pulmonary surfactant deficiency in the lungs of neonates, most commonly in those born at 37 weeks gestation. (msdmanuals.com)

For example, the deficiency in plasmalogens, the most abundant ether lipids in mammals, has detrimental effects on the brain, which is a major issue in inherited peroxisomal disorders but also contributes to more common disorders like Alzheimer's disease. (amsterdamumc.org)

Variants (also called mutations) in the ABCA1 gene can cause a condition called familial HDL deficiency. (medlineplus.gov)
Background and Purpose The ATP-binding cassette transporter A-1 (ABCA1) gene is a key target of the transcription factors liver-X-receptors (LXRs). (bioinf.org)

Familial HDL deficiency characterized by hypercatabolism of mature apoA-I but not proapoA-I. Arterioscler Thromb Vasc Biol. (medlineplus.gov)

Proteína de la subfamilia de los TRANSPORTADORES DE CASETES DE UNIÓN A ATP que se localiza en la membrana canalicular de los HEPATOCITOS, así como en la membrana apical de las CÉLULAS EPITELIALES del DUODENO, el YEYUNO y los TÚBULOS RENALES PROXIMALES. (bvsalud.org)
ABCG5 and ABCG8 are two heterodimeric ATP-binding cassette (ABC) transporters on hepatic canalicular membrane and are major contributors of hepatocytes cholesterol secretion into bile [ 4 ], as evidenced by approximately 75% reduced biliary cholesterol secretion rate in Abcg5 and/or Abcg8 KO mice [ 5 ]. (ijbs.com)

it is a member of the ABC transporter superfamily. (medscape.com)

Mitochondria are the energy producing organelles in eukaryotic cell providing ATP through oxidative phosphorylation (OXPHOS). (hindawi.com)

Neonates of mothers with PE have a high risk of cardiovascular diseases, stroke, mental retardation, sensory deficiencies and an increased risk of developing metabolic diseases. (biomedcentral.com)

ALDP deficiency impairs the peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) and facilitates their further chain elongation by ELOVL1 resulting in accumulation of VLCFA in plasma and tissues. (omeka.net)
The Gini index (coefficient) characterises inequalities of distributions, and is used in a novel way to describe the distribution of the expression of each transporter among the different tissues and cell lines. (biorxiv.org)
In many cases, transporters exhibit extremely high Gini coefficients, even when their supposed substrates might be expected to be available to all tissues, indicating a much higher degree of specialisation than is usually assumed. (biorxiv.org)
Similar trends hold true for the expression profiles of transporters in different cell lines, suggesting that cell lines exhibit largely similar transport behaviour to that of tissues. (biorxiv.org)
By contrast, the Gini coefficients for ABC transporters tend to be larger in cell lines than in tissues, implying that some kind of a selection process has taken place. (biorxiv.org)

We hypothesize that this PL deficiency leads to aberrant parenchymal remodeling contributing to the pathophysiology of the DPLD phenotype. (nih.gov)

Perland and Fredriksson, 2017 ) or the pharmaceutical drug substrates of these transporters, and one clue to this may be to understand their differential tissue distribution. (biorxiv.org)

mainly involved in uptake, and ABC transporters (ABCs), mainly involved in efflux (e.g. (biorxiv.org)
This family includes transporters involved in the uptake of various metallic cations such as iron, manganese, and zinc. (umbc.edu)
The ATPases of this group of transporters are very similar to members of iron-siderophore uptake family suggesting that they share a common ancestor. (umbc.edu)

The transporter associated with antigen processing (TAP), which is composed of two subunits (TAP1 and TAP2) that have different biochemical and functional properties, plays a key role in peptide loading and the cell surface expression of HLA class I molecules. (lu.se)

Rationale Pulmonary Alveolar Proteinosis (PAP) patients exhibit an acquired deficiency of biologically active granulocyte-macrophage colony stimulating factor (GM-CSF) attributable to GM-CSF specific autoantibodies. (ecu.edu)

As the major cell-surface transporter, ABCA1 appears to be the main contributor to arterial stiffness changes in terms of structural and cellular function. (biomedcentral.com)

This leads to an HDL deficiency with serum concentrations that are 100-200 times lower than that of normal persons, while cholesterol esters accumulate in the cell. (zxc.wiki)

Are human ATP-binding cassette transporter C11 and earwax associated with the incidence of cholesteatoma? (cdc.gov)

The absence of TAP1 is compatible with life and do not result in higher susceptibility to viral infections than TAP2 deficiency. (lu.se)

Concomitant reduction of IGF1 and upregulation of MMP9 may contribute to brain ABCA1-deficiency induced BBB and WM/axonal damage in the ischemic brain. (bioinf.org)

Taken together, the evidence suggests that APOL1-G1 and -G2 risk variants impaired reverse cholesterol transport through decreased expression of cholesterol efflux transporters suggesting a possible mechanism to promote macrophage foam cell formation, driving inflammation in the glomerulus and renal interstitium. (omicsdi.org)

Conclusions We demonstrate that brain ABCA1-deficiency increases BBB leakage, WM/axonal damage and functional deficits after stroke. (bioinf.org)
Human brain ABCA1 deficiency boosts BBB dysfunction after heart stroke To check whether human brain ABCA1 insufficiency regulates BBB leakage after heart stroke, albumin and AQP4 appearance in the ischemic human brain were assessed. (bioinf.org)
However, plasmalogen deficiency in the brain cannot be overcome by this approach. (amsterdamumc.org)

Keywords: recombinant human growth hormone (rhGH), growth hormone deficiency (GHD), short statureBackground: Recombinant growth hormone is used for the treatment of growth hormone deficiency. (eurospe.org)

The parental (F1) mouse line (mAbca3E292V) that retained an intronic pgk-Neo selection cassette (inserted in reverse orientation) (mAbca3E292V-rNeo) demonstrated an allele dependent extracellular surfactant phospholipid (PL) deficiency. (nih.gov)

Cholesterol mobilization involves adipose tissue ATP-binding cassette transporter A1 (ABCA1), which has recently been shown to contribute to HDL biogenesis in vivo ( 9 , 10 ). (diabetesjournals.org)

A shortage (deficiency) of HDL is believed to increase a person's risk of cardiovascular disease. (medlineplus.gov)
Two rare diseases-fish-eye disease (FED) and familial LCAT deficiency (FLT)-result from a lack of LCAT. (nih.gov)
The US National Cholesterol Education Program (NCEP) Adult Treatment Panel III (ATP III) redefined the HDL cholesterol level that constitutes a formal coronary heart disease (CHD) risk factor. (medscape.com)

In supplemental animal studies, LPLA2 deficiency was verified in GM-CSF KO mice but was not present in macrophage-specific PPARγ KO mice compared to wild-type controls. (ecu.edu)
ATP-binding cassette domain of the metal-type transporters. (umbc.edu)
The best characterized metal-type ABC transporters are the YfeABCD system of Y. pestis, the SitABCD system of Salmonella enterica serovar Typhimurium, and the SitABCD transporter of Shigella flexneri. (umbc.edu)

In patients with DKA, timely awareness of severe HTG related to insulin deficiency is crucial for improving the consequences of AP. (e-apem.org)

Another focus of Dr. Remaley's work is on the main cholesterol efflux transporter from cells, namely the ATP-binding cassette transporter 1 (ABCA1). (nih.gov)

The most obvious symptom of Fe-deficiency in plants is chlorosis due to a decrease in chlorophyll content, which significantly affects plant growth, development and product quality. (frontiersin.org)

Anatomy7

Organisms6

Diseases6

Chemicals and Drugs69

Analytical, Diagnostic and Therapeutic Techniques and Equipment11

Phenomena and Processes34

Information Science3

ABCA1 and ABCG13

ABCG12

Lipid10

Proteins3

Genes5

Tangier Disease4

Protein7

Membrane transporters1

Mutation1

Efflux capacity1

Cholesterol transporters1

Surfactant deficiency1

Alzheimer's1

Gene2

Familial HDL deficiency1

Canalicular2

Superfamily1

Eukaryotic1

Metabolic1

Tissues5

Pathophysiology1

20171

Uptake3

Antigen1

Pulmonary1

Cellular1

Serum1

Incidence1

Susceptibility1

Upregulation1

Reverse cholesterol transport1

Brain3

HUMAN1

Dependent1

Involves1

Disease3

Type3

Severe1

Cells1

Growth1