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Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV, [5]: 6822 [6] is a zymogen, that is, an inactive enzyme.The activated form plays an important role in regulating anticoagulation, inflammation, and cell death and maintaining the permeability of blood vessel walls in humans and other animals.
The human protein C gene (PROC) comprises 9 exons, and protein C deficiency has been linked to over 160 mutations to date. [ 8 ] [ 9 ] Therefore, DNA testing for protein C deficiency is generally not available outside of specialized research laboratories.
4607 17868 Ensembl ENSG00000134571 ENSMUSG00000002100 UniProt Q14896 O70468 RefSeq (mRNA) NM_000256 NM_008653 RefSeq (protein) NP_000247 NP_000247.2 n/a Location (UCSC) Chr 11: 47.33 – 47.35 Mb Chr 2: 90.95 – 90.97 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse The myosin-binding protein C, cardiac-type is a protein that in humans is encoded by the MYBPC3 gene. This isoform is ...
Protein C Anticoagulant Pathway: Thrombin escaping from a site of vascular injury binds to its receptor thrombomodulin (TM) on the intact cell surface. As a result, thrombin loses its procoagulant properties and instead becomes a potent activator of protein C. Activated protein C (APC) functions as a circulating anticoagulant, which ...
Factor V Leiden is an autosomal dominant genetic condition that exhibits incomplete penetrance, i.e. not every person who has the mutation develops the disease. The condition results in a factor V variant that cannot be as easily degraded by activated protein C. The gene that codes the protein is referred to as F5.
A mutant protein is the protein product encoded by a gene with mutation. [1] Mutated protein can have single amino acid change (minor, but still in many cases significant change leading to disease) or wide-range amino acid changes by e.g. truncation of C-terminus after introducing premature stop codon.
3815 16590 Ensembl ENSG00000157404 ENSMUSG00000005672 UniProt P10721 P05532 RefSeq (mRNA) NM_000222 NM_001093772 NM_001122733 NM_021099 RefSeq (protein) NP_000213 NP_001087241 NP_001116205 NP_066922 Location (UCSC) Chr 4: 54.66 – 54.74 Mb Chr 5: 75.74 – 75.82 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Proto-oncogene c-KIT is the gene encoding the receptor tyrosine kinase ...
10544 19124 Ensembl ENSG00000101000 ENSMUSG00000027611 UniProt Q9UNN8 Q64695 RefSeq (mRNA) NM_006404 NM_011171 RefSeq (protein) NP_006395 NP_035301 Location (UCSC) Chr 20: 35.17 – 35.22 Mb Chr 2: 155.59 – 155.6 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Endothelial protein C receptor (EPCR) also known as activated protein C receptor (APC receptor) is a protein that in humans ...