COL9A1, collagen type IX alpha 1 chain

COL9A1, collagen type IX alpha 1 chain

• This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

• Gene Synonyms (collagen alpha-1(IX) chain, alpha-1(IX) collagen chain, cartilage-specific short collagen, collagen IX, alpha-1 polypeptide, collagen, type IX, alpha 1, DJ149L1.1.2, EDM6, MED, STL4,)
• NCBI Gene ID: 1297
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P20849
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

collagen type IX alpha 1 chain interacts with:

• cartilage oligomeric matrix protein
  CTP synthase 2
  fms related receptor tyrosine kinase 3
  myelin associated glycoprotein
  protein phosphatase 1 regulatory subunit 12C
  von Hippel-Lindau tumor suppressor

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.