Fanconi anemia complementation group l protein. Medical search. Frequent questions

An E3 UBIQUITIN LIGASE that plays a key role in the DNA damage response pathway of FANCONI ANEMIA PROTEINS. (wakehealth.edu)
Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. (lu.se)
To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. (lu.se)
Patients with the X-linked form have mutations in DKC1 at band Xq28, a gene that encodes for dyskenin, in a protein involved in the telomere maintenance pathway. (medscape.com)
There has been a recent profusion of reviews on Fanconi anemia (FA), which will give readers a comprehensive outline of the field R.D. Kennedy, A.D. D'Andrea, The Fanconi anemia/BRCA pathway: new faces in the crowd, Genes Dev. (ox.ac.uk)
Recent studies have elucidated a biochemical pathway for Fanconi anemia that culminates in the monoubiquitination of the FANCD2 protein. (ashpublications.org)
Fanconi anemia (FA) is a complex genetic disease associated with a defective DNA repair pathway known as the FA pathway. (ibecbarcelona.eu)
In contrast to many other FA proteins, BRCA2 participates downstream in this pathway and has a critical role in homology-directed recombination (HDR). (ibecbarcelona.eu)

Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene. (wikipedia.org)
A nuclear complex containing FANCC protein (as well as FANCA, FANCF and FANCG) is essential for the activation of the FANCD2 protein to the mono-ubiquitinated isoform. (wikipedia.org)
FANCC together with FANCE acts as the substrate adaptor for this reaction Activated FANCD2 protein co-localizes with BRCA1 (breast cancer susceptibility protein) at ionizing radiation-induced foci and in synaptonemal complexes of meiotic chromosomes. (wikipedia.org)
FANCC(-/-) mutant male and female mice have compromised gametogenesis, leading to markedly impaired fertility, a characteristic of Fanconi anemia patients. (wikipedia.org)
Entrez Gene: FANCC Fanconi anemia, complementation group C". PMC, Europe. (wikipedia.org)
See 40 reference sequence protein isoforms for the FANCC gene. (nih.gov)
We previously showed that the Fanconi anemia C protein (FANCC) interacts with UNC5A and delays UNC5A-mediated apoptosis. (biomedcentral.com)
FANCC is a predominantly cytoplasmic protein that has multiple functions including DNA damage signaling, oxygen radical metabolism, signal transduction, transcriptional regulation and apoptosis. (biomedcentral.com)
In a previous report, we showed that the Fanconi anemia C protein, FANCC, interacts directly with UNC5A via its cytoplasmic death domain. (biomedcentral.com)
FANCC is one of many Fanconi anemia (FA) proteins that act in signaling events following cellular stress including DNA damage and oxidative stress. (biomedcentral.com)

Twelve Fanconi anemia complementation (FANC) group genes have been identified. (medscape.com)
Affymetrix array profiling and subsequent qPCR/protein validation revealed that induction of select Nrf2 target genes, HO-1 and NQO1, was significantly attenuated in cells adapted to 5% O2, despite nuclear accumulation and DNA binding of Nrf2. (ox.ac.uk)
Cellular DNA-binding proteins encoded by the rel gene (GENES, REL). (childrensmercy.org)
Since genes associated with similar diseases/disorders show an increased tendency for their protein products to interact with each other through protein-protein interactions (PPI), clustering analysis obviously as an efficient technique can be easily used to predict human disease-related gene clusters/subnetworks. (ijbs.com)

Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. (lookformedical.com)
Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. (lookformedical.com)

It is associated with mono-ubiquitination of FANCD2 PROTEIN and the redistribution of FANCD2 to nuclear foci containing BRCA1 PROTEIN. (wakehealth.edu)
Activated FANCD2 protein may function prior to the initiation of meiotic recombination, perhaps to prepare chromosomes for synapsis, or to regulate subsequent recombination events. (wikipedia.org)
Fanconi anemia complementation group D2 (FANCD2) is a vital gene that regulates ferroptosis. (bvsalud.org)
Protein-protein interaction networks for FANCD2 were built using the STRING website. (bvsalud.org)

Mutations in this gene result in Fanconi anemia, a human rare disorder characterized by cancer susceptibility and cellular sensitivity to DNA crosslinks and other damages. (wikipedia.org)
The BRCA1-associated FANCJ helicase is among those helicases able to unwind G4 DNA in vitro, and FANCJ mutations are associated with breast cancer and linked to Fanconi anemia. (nih.gov)
Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. Thus, inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers. (nih.gov)

Single chains of amino acids that are the units of multimeric PROTEINS. (rush.edu)

Patients with ataxia telangiectasia, also known as Louis-Bar syndrome, are hypersensitive to ionizing radiation, while patients with Bloom syndrome, Fanconi anemia, and xeroderma pigmentosum are sensitive to UV radiation. (medscape.com)

A large superfamily of CRISPR-ASSOCIATED PROTEINS that contain at least one RNA recognition motif. (nih.gov)

BRCA1 Protein" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (jefferson.edu)
In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (jefferson.edu)
This graph shows the total number of publications written about "BRCA1 Protein" by people in this website by year, and whether "BRCA1 Protein" was a major or minor topic of these publications. (jefferson.edu)
Below are the most recent publications written about "BRCA1 Protein" by people in Profiles. (jefferson.edu)

Fanconi anemia and DNA replication repair. (ox.ac.uk)
Here, we will focus on key areas that place the FA proteins in the context of DNA repair during replication. (ox.ac.uk)
hSSB1 is a critical DNA repair protein functioning in the repair and signalling of stalled DNA replication forks, double strand DNA breaks and oxidised DNA lesions. (biomedcentral.com)
Bloom syndrome protein (BLM), a member of the RecQ family of helicases, is one such enzyme, with roles in HR, as well as telomere maintenance and replication [ 8 , 9 ]. (biomedcentral.com)
These can be subdivided into the "simple SSBs", which are composed of one polypeptide, as well as the higher-order "replication protein A (RPA)"-like SSBs [ 15 ]. (biomedcentral.com)

Fanconi anemia complementation group C protection against oxidative stress‑induced β‑cell apoptosis. (nih.gov)

Below are the most recent publications written about "Proto-Oncogene Proteins c-mdm2" by people in Profiles. (umassmed.edu)

Fanconi anemia (FA) is an autosomal recessive cancer susceptibility disorder characterized by diverse clinical features such as skeletal or skin abnormalities, progressive bone marrow failure, and increased risk of malignancies. (ashpublications.org)

Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome characterized by congenital abnormalities, progressive bone marrow failure, and cancer predisposition. (ashpublications.org)

Nat Genet 4:202-205, 1993) demonstrated homozygosity for an identical splice mutation in 2 Ashkenazi Jewish patients with Fanconi anemia. (coriell.org)

It contains an N-terminal RING FINGER DOMAIN and is a PROTEIN PHOSPHATASE 1 regulatory subunit. (jefferson.edu)

Fanconi anemia is inherited in either an autosomal recessive or X-linked fashion. (medscape.com)
Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. (medscape.com)

Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. (lookformedical.com)
Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm. (lookformedical.com)

Diamond-Blackfan anemia is an autosomal dominant disease in which 25% of patients have a mutation in the gene for small ribosomal protein ( RPS19 ), located at band 19q13.2. (medscape.com)
Gene complementation facilitated the generation of Brca2Î"27/Î"27 induced pluripotent stem cells (iPSCs) with a disease-free FA phenotype. (ibecbarcelona.eu)
Chanu P, Schaefer F, Warady BA, Schmitt CP, Reigner B, Schnetzler G, Meyer Reigner S, Eisner M, Weichert A, Frey N. Model-based approach for methoxy polyethylene glycol-epoetin beta drug development in paediatric patients with anaemia of chronic kidney disease. (childrensmercy.org)
With the increase in availability of human protein interaction data and gene expression data, the focus of bioinformatics development has shifted from understanding networks encoded by model species to understanding the networks underlying human disease [ 1 ]. (ijbs.com)

The inherited bone marrow failure syndromes (IBMFS) include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and other genetic disorders. (medscape.com)
Fanconi anemia (FA) is a rare heterogeneous genetic disorder composed of at least 13 complementation groups. (iu.edu)
H. Joenje, K.J. Patel, The emerging genetic and molecular basis of Fanconi anaemia, Nat. (ox.ac.uk)
7 Early and accurate diagnosis of Fanconi anemia is important, because it profoundly affects patient monitoring and treatment decisions and permits early genetic counseling of family members. (ashpublications.org)

Proteins encoded by the mitochondrial genome or proteins encoded by the nuclear genome that are imported to and resident in the MITOCHONDRIA. (harvard.edu)
It encodes a large nuclear protein that is a component of DNA repair pathways. (lookformedical.com)
It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (lookformedical.com)

The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. (helixlabs.ai)
Its ability to ubiquitinate p53 is regulated by TUMOR SUPPRESSOR PROTEIN P14ARF. (umassmed.edu)

E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. (helixlabs.ai)
The receptor has an unusual composition in that it shares some structural similarities with G-PROTEIN-COUPLED RECEPTORS and functions as an ubiquitin protein ligase when internalized. (uams.edu)

Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. (nih.gov)

Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). (lu.se)
Las mutaciones en el gen PALB2 se asocian al grupo de complementación N de la ANEMIA DE FANCONI, NEOPLASIAS PANCREÁTICAS de tipo 3 y a susceptibilidad al CÁNCER DE MAMA. (bvsalud.org)

This protein delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. (wikipedia.org)
It functions as a molecular scaffold to localize and stabilize these proteins at homologous recombination sites. (bvsalud.org)

Fanconi Anemia Complementation Group L Protein" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (wakehealth.edu)

Neurofibromin, the protein product of the NF1 gene, functions at least in part as a GTPase activating protein that regulates Ras proteins by stimulating their intrinsic GTPase activity. (iu.edu)

The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (lookformedical.com)

The bone marrow failure syndromes comprise a group of disorders than can be either inherited or acquired. (medscape.com)
Some of the specific syndromes occur at relatively high rates in certain ethnic groups. (medscape.com)

Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. (nih.gov)

Dr. Clapp's group is also interested in the cellular and biochemical functions of an orphan group of proteins that are involved in the heterogenetic disorder Fanconi Anemia. (iu.edu)

Brca2 protein. (lookformedical.com)

[ 1 ] The most common cause of acquired bone marrow failure is aplastic anemia . (medscape.com)

Ribbon boosts ribosomal protein gene expression to coordinate organ form and function. (uchicago.edu)

Transcription regulatory protein SNF2 (EC 3.6.4. (weizmann.ac.il)

Our data highlights that BLM helicase and hSSB1 function in a dynamic complex in cells and that this complex is likely required for BLM protein stability and function. (biomedcentral.com)

Methods: Protein physical interactions were screened using the yeast two-hybrid system. (lu.se)

In addition, UNC5 proteins have been proposed to function as 'dependence receptors', triggering apoptosis in the absence of the ligand Netrin-1 and sending survival signals when bound to the ligand [ 5 ]. (biomedcentral.com)

Funciona como andamio molecular para localizar y estabilizar estas proteínas en los sitios de recombinación homóloga. (bvsalud.org)

Diseases3

Chemicals and Drugs11

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Phenomena and Processes1

Pathway8

FANCC10

Genes4

Neoplasm Proteins2

FANCD24

Mutations3

Amino Acids1

Xeroderma Pigmentosum1

CRISPR-ASSOCIATED PROTEINS1

BRCA1 PROTEIN4

Replication5

Oxidative1

Proto-Oncogene1

Susceptibility1

Instability1

Genet1

Subunit1

Autosomal recessive2

Progression2

Disease4

Genetic4

Nuclear3

Tumor2

Ubiquitin-protei2

Thrombocytopenia1

PALB22

Homologous recombination2

MeSH1

Regulates1

Chromosomal1

Syndromes2

Syndrome1

Biochemical1

BRCA2 Protein1

Aplastic anemia1

Ribosomal protein1

Regulatory1

Helicase1

Interactions1

Apoptosis1

Molecular1