GGCX gamma-glutamyl carboxylase
Gene ID: 2677, updated on 3-Apr-2024Gene type: protein coding
Also known as: VKCFD1
- See all available tests in GTR for this gene
- Go to complete Gene record for GGCX
- Go to Variation Viewer for GGCX variants
Summary
This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | See labs |
| Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. GeneReviews: Not available | |
| Vitamin K-dependent clotting factors, combined deficiency of, type 1 | See labs |
Genomic context
- Location:
- 2p11.2
- Sequence:
- Chromosome: 2; NC_000002.12 (85544720..85561493, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GGCX variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GGCX database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- 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
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