Collagen, type XII, alpha 1

130312816ENSG00000111799ENSMUSG00000032332Q99715Q60847NM_004370NM_080645NM_001290308NM_007730NP_004361NP_542376NP_001277237Collagen alpha-1(XII) chain is a protein that in humans is encoded by the COL12A1 gene.

[5][6] 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.

[6] Mutations in COL12A1 are known to cause the following conditions: This article on a gene on human chromosome 6 is a stub.