Recombinant Human Collagen alpha-1 (IX) chain (COL9A1), Truncated

Uniprot Id

P20849

Target Species

Human

Target Name

COL9A1

Target Full Name

Collagen alpha-1(IX) chain

Target Function

Structural component of hyaline cartilage and vitreous of the eye.

Target Involvement

Multiple epiphyseal dysplasia 6 (EDM6); Stickler syndrome 4 (STL4)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix.

Target Protein Families

Fibril-associated collagens with interrupted helices (FACIT) family

Target Synonyms

COL9A1Collagen alpha-1(IX) chain

Target Background

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.