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: MIR4783

Alternate names for this Gene: -

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 2

Location in Chromosome : 2q14.3

Description of this Gene: microRNA 4783

Type of Gene: ncRNA

rs370813536 in PROC;MIR4783 gene and Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 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 2602169 1989 Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis.

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

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

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

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

PMID 25618265 2015 Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing 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 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 1301959 1992 Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.

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

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