Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Sequence of this protein is as follows: MKTCWKIPVF FFVCSFLEPW ASAAVKRRPR FPVNSNSNGG NELCPKIRIG QDDLPGFDLI SQFQVDKAAS RRAIQRVVGS ATLQVAYKLG NNVDFRIPTR NLYPSGLPEE YSFLTTFRMT GSTLKKNWNI WQIQDSSGKE QVGIKINGQT QSVVFSYKGL DGSLQTAAFS NLSSLFDSQW HKIMIGVERS SATLFVDCNR IESLPIKPRG PIDIDGFAVL GKLADNPQVS VPFELQWMLI HCDPLRPRRE TCHELPARIT PSQTTDERGP PGEQGPPGPP GPPGVPGIDG IDGDRGPKGP PGPPGPAGEP GKPGAPGKPG TPGADTSP
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: alpha-1(IX) collagen chain; cartilage-specific short collagen; Collagen alpha-1(IX) chain; collagen IX, alpha-1 polypeptide; collagen, type IX, alpha 1
Gene Aliases: COL9A1; DJ149L1.1.2; EDM6; MED; STL4
UniProt ID: (Human) P20849
Entrez Gene ID: (Human) 1297
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