COL6A6 Chromosome 3
Collagen type VI alpha 6 chain
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What This Gene Does
This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017]
Gene Info
Gene Group
Collagens
Locus Type
gene with protein product
Location
3q22.1
Ensembl
ENSG00000206384
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140872639 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370108251 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1553788733 | Health Risk | Likely pathogenic | — |