COL16A1 collagen type XVI alpha 1 chain
Gene ID: 1307, updated on 2-Nov-2024Gene type: protein coding
Also known as: 447AA; FP1572
- See all available tests in GTR for this gene
- Go to complete Gene record for COL16A1
- Go to Variation Viewer for COL16A1 variants
Summary
This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-02-01) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 1p35.2
- Sequence:
- Chromosome: 1; NC_000001.11 (31652263..31704017, complement)
- Total number of exons:
- 74
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL16A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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