Creative biogene
SHARE THIS
facebook twitterlinkedingoogle plusStumbleUpon blog


  Order Info:   order info
Products
CBpromise

24x7 CUSTOMER SERVICE

CONTACT US TO ORDER

;

col9a1

Bookmark and Share
Official Full Name
collagen, type IX, alpha 1
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.
Synonyms
COL9A1; collagen, type IX, alpha 1; MED; EDM6; STL4; DJ149L1.1.2; collagen alpha-1(IX) chain; alpha-1(IX) collagen chain; collagen IX, alpha-1 polypeptide; cartilage-specific short collagen; FLJ40263; DJ149L1.1.2;COL9A1; cartilage alpha(IX) collagen; alpha(IX) collagen-proteoglycan

CONTACT CREATIVE BIOGENE

45-1 Ramsey Road, Shirley, NY 11967, USA
Tel: 1-631-626-9181
Fax: 1-631-614-7828
Email: info@creative-biogene.com

Europe
Tel: 44-207-097-1828

Terms & Conditions | Privacy Policy | Sitemap | FAQ | © 2010-2017 Creative Biogene. All Rights Reserved.
-->