Gene: LOC105373608

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs121918156 in LOC105373608;PROC gene and Deep Vein Thrombosis PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs121918156 in LOC105373608;PROC gene and Protein C Deficiency PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs121918154 in LOC105373608;PROC gene and Thromboembolism PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs1211098698 in LOC105373608;PROC gene and Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant PMID 2437584 1987 Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.

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

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

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

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

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

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

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 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 24162787 2014 Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.

PMID 22545135 2012 Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.

PMID 23332921 2013 Common genetic risk factors for venous thrombosis in the Chinese population.

PMID 24028705 2014 Deficiency of antithrombin and protein C gene in 202 Chinese venous thromboembolism patients.

PMID 22817391 2012 PROC c.574_576del polymorphism: a common genetic risk factor for venous thrombosis in the Chinese population.

PMID 15978566 2005 Protein S and protein C gene mutations in Japanese deep vein thrombosis patients.

PMID 9840027 1998 Genetic analysis of protein C deficiency in nineteen Japanese families: five recurrent defects can explain half of the deficiencies.

PMID 19822351 2010 A homozygous protein C deficiency (Lys 192 del) who developed venous thrombosis for the first time at adulthood.