Product Datasheet
COL9A1 Antibody
Catalog Number: 46534
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot:P20849
NCBI Gene ID:1297
NCBI Protein:BC015409
- Form of Antibody:
- Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
- Immunogen:
- Synthetic protein corresponding to residues near the N terminal of human COL9A1
- appl_detail:
Immunohistochemistry: 1: 25-100
- other_names:
- MED; EDM6; STL4; DJ149L1.1.2
- Purification:
- Antigen affinity purification
- Specificity:
- The antibody detects endogenous levels of total COL9A1 protein.
- 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.?
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