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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. [5]
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.
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 ...
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 ...
The treacle protein is involved in rRNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Alternate transcriptional splice variants encoding different isoforms have been found for ...
In cell biology, protein kinase C, commonly abbreviated to PKC (EC 2.7.11.13), is a family of protein kinase enzymes that are involved in controlling the function of other proteins through the phosphorylation of hydroxyl groups of serine and threonine amino acid residues on these proteins, or a member of this family.
Because the gene for factor IX is located on the X chromosome (Xq27.1-q27.2), loss-of-function mutations thereof are X-linked recessive: males experience the disease phenotype much more frequently than females. At least 534 disease-causing mutations in this gene have been discovered. [15]
2353 14281 Ensembl ENSG00000170345 ENSMUSG00000021250 UniProt P01100 Q6FG41 P01101 RefSeq (mRNA) NM_005252 NM_010234 RefSeq (protein) NP_005243 NP_005243.1 NP_034364 Location (UCSC) Chr 14: 75.28 – 75.28 Mb Chr 12: 85.52 – 85.52 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Protein c-Fos is a proto-oncogene that is the human homolog of the retroviral oncogene v-fos. It is ...