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Repeated testing for protein C functional activity allows differentiation between transient and congenital deficiency of protein C. [5] [7] Initially, a protein C activity (functional) assay can be performed, and if the result is low, a protein C antigen assay can be considered to determine the deficiency subtype (Type I or Type II).
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 ...
PIK3CA-related overgrowth spectrum (PROS) is an umbrella term for rare syndromes characterized by malformations and tissue overgrowth caused by somatic mutations in PIK3CA gene. [ 1 ] [ 2 ] [ 3 ] In PROS diseases individuals malformations are seen in several different tissues such as skin, vasculature, bones, fat and brain tissue depending on ...
The propeptide of pulmonary surfactant C has an N-terminal alpha-helical segment whose suggested function was stabilization of the protein structure, since the mature peptide can irreversibly transform from its native alpha-helical structure to beta-sheet aggregates and form amyloid fibrils. The correct intracellular trafficking of proSP-C has ...
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 ...
5104 268591 Ensembl ENSG00000188488 ENSMUSG00000041550 UniProt P05154 P70458 RefSeq (mRNA) NM_000624 NM_172953 RefSeq (protein) NP_000615 NP_766541 Location (UCSC) Chr 14: 94.56 – 94.59 Mb Chr 12: 104.07 – 104.07 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Protein C inhibitor (PCI, SERPINA5) is a ser ine p rotease in hibitor (serpin) that limits the activity of protein C (an ...
Filamin-C (FLN-C) also known as actin-binding-like protein (ABPL) or filamin-2 (FLN2) is a protein that in humans is encoded by the FLNC gene. [ 5 ] [ 6 ] [ 7 ] Filamin-C is mainly expressed in cardiac and skeletal muscles, and functions at Z-discs and in subsarcolemmal regions.