COL4A6 collagen type IV alpha 6 chain
Gene ID: 1288, updated on 27-Nov-2024Gene type: protein coding
Also known as: DFNX6; DELXq22.3; CXDELq22.3
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- Go to complete Gene record for COL4A6
- Go to Variation Viewer for COL4A6 variants
Summary
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hearing loss, X-linked 6 | See labs |
Genomic context
- Location:
- Xq22.3
- Sequence:
- Chromosome: X; NC_000023.11 (108155614..108439458, complement)
- Total number of exons:
- 50
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL4A6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- COL4A6 homepage - Collagen, type IV, alpha
- 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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