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Collagen Type IX Alpha 3 (COL9a3)

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COL9-A3; MED; EDM3; IDD; Collagen Alpha-3(IX)chain

Collagen Type IX Alpha 3 (COL9a3)
CCC C155
HGNC 2219
MGI 894686
PubMed 10090888
UniProt Q14050
Wiki COL9A3

Collagen alpha-3(IX) chain is one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia.

Defects in COL9A3 are the cause of multiple epiphyseal dysplasia type 3 (EDM3); also known as multiple epiphyseal dysplasia with myopathy. EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types.
 

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC155Hu01 Recombinant Collagen Type IX Alpha 3 (COL9a3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC155Hu01 Polyclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IP.
MAC155Hu22 Monoclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IP.
Assay Kits SEC155Hu ELISA Kit for Collagen Type IX Alpha 3 (COL9a3) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Collagen Type IX Alpha 3 (COL9a3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Collagen Type IX Alpha 3 (COL9a3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Collagen Type IX Alpha 3 (COL9a3) ELISA Kit Customized Service Offer
  1. "Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3."Genomics 30:329-336(1995) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants."J. Biol. Chem. 274:22469-22475(1999) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence and comparative analysis of human chromosome 20." Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Developmental regulation of mRNA species for types II, IX and XI collagens during mouse embryogenesis."Biochem. J. 324:209-216(1997) [PubMed] [Europe PMC] [Abstract]
  6. "COL9A3: A third locus for multiple epiphyseal dysplasia."Am. J. Hum. Genet. 64:1036-1044(1999) [PubMed] [Europe PMC] [Abstract]
  7. ErratumAm. J. Hum. Genet. 65:1214-1214(1999)
  8. "Identification of a novel common genetic risk factor for lumbar disk disease."JAMA 285:1843-1849(2001) [PubMed] [Europe PMC] [Abstract]
  9. "A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity."Am. J. Hum. Genet. 69:969-980(2001) [PubMed] [Europe PMC] [Abstract]
  10. "Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report."BMC Musculoskelet. Disord. 15:371-371(2014) [PubMed] [Europe PMC] [Abstract]