Gene: PROC

Alternate names for this Gene: APC|PC|PROC1|THPH3|THPH4

Gene Summary: This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.

Gene is located in Chromosome: 2

Location in Chromosome : 2q14.3

Description of this Gene: protein C, inactivator of coagulation factors Va and VIIIa

Type of Gene: protein-coding

rs121918149 in PROC gene and Abnormal thrombosis PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs1158867 in PROC gene and Asthma PMID 21907864 2011 Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.

rs1799810 in PROC gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs369504169 in PROC gene and Deep Vein Thrombosis PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs1158867 in PROC gene and Protein C antigen measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

PMID 28082259 2017 Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities).

rs1158867 in PROC gene and Protein C measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

PMID 28082259 2017 Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities).

rs369504169 in PROC gene and Thromboembolism PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs121918148 in PROC gene and Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant PMID 8560401 1995 Protein C Osaka 10 with aberrant propeptide processing: loss of anticoagulant activity due to an amino acid substitution in the protein C precursor.

PMID 9798967 1998 Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.

PMID 2437584 1987 Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.

PMID 8829639 1996 Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.

PMID 1511989 1992 Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.

PMID 1301959 1992 Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.

PMID 1347706 1992 Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations.

PMID 7865674 1994 Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.

PMID 8292730 1993 Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.

PMID 1868249 1991 The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.

PMID 2602169 1989 Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis.

PMID 8499568 1993 A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.

PMID 8398832 1993 Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket.

PMID 25748729 2015 Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations.

PMID 7792728 1995 Six different point mutations in seven Danish families with symptomatic protein C deficiency.

PMID 25618265 2015 Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency.

PMID 7482420 1995 Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH.

PMID 16867987 2006 Multifunctional specificity of the protein C/activated protein C Gla domain.

PMID 17152060 2007 Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.

PMID 8477066 1993 An abnormal protein C (protein C Yonago) with an amino acid substitution of Gly for Arg-15 caused by a single base mutation of C to G in codon 57 (CGG-->GGG). Deteriorated calcium-dependent conformation of the gamma-carboxyglutamic acid domain relevant to a thrombotic tendency.

PMID 1498334 1992 Role of individual gamma-carboxyglutamic acid residues of activated human protein C in defining its in vitro anticoagulant activity.

PMID 8505327 1993 The contributions of individual gamma-carboxyglutamic acid residues in the calcium-dependent binding of recombinant human protein C to acidic phospholipid vesicles.

PMID 1464619 1992 Influence of specific gamma-carboxyglutamic acid residues on the integrity of the calcium-dependent conformation of human protein C.

PMID 1771629 1991 A new hereditary abnormal protein C (protein C Yonago) with a dysfunctional Gla-domain.

PMID 14642106 2003 [Type I hereditary protein C deficiency due to C5498T mutation in protein C gene].

PMID 8446940 1993 Protein C deficiency: a database of mutations. For the Protein C & S Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.