COL12A1 collagen type XII alpha 1 chain
Gene ID: 1303, updated on 10-Oct-2024Gene type: protein coding
Also known as: UCMD2; BTHLM2; EDSMYP; COL12A1L; BA209D8.1; DJ234P15.1
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- Go to complete Gene record for COL12A1
- Go to Variation Viewer for COL12A1 variants
Summary
This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated conditions
Genomic context
- Location:
- 6q13-q14.1
- Sequence:
- Chromosome: 6; NC_000006.12 (75084326..75206053, complement)
- Total number of exons:
- 68
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL12A1 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
- 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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