PROC protein C, inactivator of coagulation factors Va and VIIIa
Gene ID: 5624, updated on 24-Mar-2024Gene type: protein coding
Also known as: PC; APC; PROC1; THPH3; THPH4
- See all available tests in GTR for this gene
- Go to complete Gene record for PROC
- Go to Variation Viewer for PROC variants
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.[provided by RefSeq, Dec 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of self-rated health. GeneReviews: Not available | |
| Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study. GeneReviews: Not available | |
| Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. GeneReviews: Not available | |
| Thrombophilia due to protein C deficiency, autosomal dominant | See labs |
| Thrombophilia due to protein C deficiency, autosomal recessive | See labs |
Genomic context
- Location:
- 2q14.3
- Sequence:
- Chromosome: 2; NC_000002.12 (127418427..127429242)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PROC variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PROC database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.