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Protein C is vitamin K-dependent. Patients with Protein C deficiency are at an increased risk of developing skin necrosis while on warfarin. Protein C has a short half life (8 hour) compared with other vitamin K-dependent factors and therefore is rapidly depleted with warfarin initiation, resulting in a transient hypercoagulable state.
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.
Currently, about 50–60% of people with a high index of clinical suspicion for HCM will have a mutation identified in at least one of nine sarcomeric genes. Approximately 40% of these mutations occur in the β-myosin heavy chain gene on chromosome 14 q11.2-3, and approximately 40% involve the cardiac myosin-binding protein C gene.
Types of mutations that can be introduced by random, site-directed, combinatorial, or insertional mutagenesis. In molecular biology, mutagenesis is an important laboratory technique whereby DNA mutations are deliberately engineered to produce libraries of mutant genes, proteins, strains of bacteria, or other genetically modified organisms. The ...
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.
The blood coagulation and Protein C pathway.. Factor IX is produced as a zymogen, an inactive precursor.It is processed to remove the signal peptide, glycosylated and then cleaved by factor XIa (of the contact pathway) or factor VIIa (of the tissue factor pathway) to produce a two-chain form, where the chains are linked by a disulfide bridge.
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 ...
Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene. [ 5 ] [ 6 ] This protein delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.