Invitrogen™ COL9A1 Polyclonal Antibody

Description

Immunogen sequence: WASAAVKRRP RFPVNSNSNG GNELCPKIRI GQDDLPGFDL ISQFQVDKAA SRRAIQRVVG SATLQVAYKL GNNVDFRIPT RNLYPSGLPE EYSFLTTFRM TGSTLKKNWN IWQIQDSSGK EQVGIKINGQ TQSVVFSYKG LDGSLQTAAF SNLSSLFDSQ WHKIMIGVER SSATLFVDCN RIESLPIKPR GPIDIDGFAV LGKLADNPQV SVPFELQWML IHCDPLRPRR ETCHELPARI TPSQTTDERG P; Positive Samples: Mouse skeletal muscle; Cellular Location: extracellular matrix, extracellular space.

COL9A1 is 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 the COL9A1 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.