COL6A5 gene

collagen type VI alpha 5 chain

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

From UniProt:

Collagen VI acts as a cell-binding protein.

From UniProt:

Patients affected by atopic dermatitis display an abnormal distribution of COL29A1 mRNA and protein in skin suggesting that COL29A1 may be involved in the pathogenesis of the disease.

Cytogenetic Location: 3q22.1, which is the long (q) arm of chromosome 3 at position 22.1

Molecular Location: base pairs 130,345,516 to 130,484,846 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q22.1, which is the long (q) arm of chromosome 3 at position 22.1
  • COL29A1
  • VWA4