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
Gene: LOC105373608
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs121918143 in
PROC;LOC105373608 gene and
Protein C Deficiency
PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
rs121918150 in
PROC;LOC105373608 gene and
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
PMID 7841324 1994 A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans.
PMID 1593215 1992 Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C.
PMID 7878626 1994 Homozygous type I protein C deficiency in two unrelated families exhibiting thrombophilia related to Ala136-->Pro or Arg286-->His mutations.
PMID 7841323 1994 A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy.
PMID 1511988 1992 A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.
PMID 25618265 2015 Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency.
PMID 1611081 1992 Protein C deficiency Hong Kong 1 and 2: hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation.
rs121918142 in
PROC;LOC105373608 gene and
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
PMID 1511989 1992 Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.
PMID 1347706 1992 Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations.
PMID 1301959 1992 Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.
PMID 2437584 1987 Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.
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 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 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 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 8292730 1993 Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.
PMID 7865674 1994 Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.
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 25618265 2015 Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency.
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 7792728 1995 Six different point mutations in seven Danish families with symptomatic protein C deficiency.
PMID 1347608 1992 Homozygous protein C deficiency with late onset and recurrent coumarin-induced skin necrosis.
PMID 1593215 1992 Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C.
PMID 8807339 1996 Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patients.
PMID 7605880 1995 Three novel mutations in the protein C (PROC) gene causing venous thrombosis.
PMID 8499565 1993 Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency.
PMID 10942114 2000 Molecular genetic analysis of severe protein C deficiency.
PMID 17635713 2007 Activated protein C.
PMID 28468828 2017 Thrombin activation of protein C requires prior processing by a liver proprotein convertase.
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 27172833 2016 Activation-resistant homozygous protein C R229W mutation causing familial perinatal intracranial hemorrhage and delayed onset of thrombosis.
PMID 18954896 2009 Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.
PMID 28111891 2017 The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.