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Collagen Type IX Alpha 3 (COL9a3)

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

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)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU689Hu01 Recombinant Collagen Type IX Alpha 3 (COL9a3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU689Hu01 Monoclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IP.
PAU689Hu01 Polyclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IF.
Assay Kits CLU689Hu01 CLIA Kit for Collagen Type IX Alpha 3 (COL9a3) CLIA assay for Antigen Detection
ELU689Hu01 ELISA Kit for Collagen Type IX Alpha 3 (COL9a3) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Mus musculus (Mouse)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU689Mu01 Recombinant Collagen Type IX Alpha 3 (COL9a3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU689Mu01 Monoclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IP.
PAU689Mu01 Polyclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IF.
Assay Kits CLU689Mu01 CLIA Kit for Collagen Type IX Alpha 3 (COL9a3) CLIA assay for Antigen Detection
ELU689Mu01 ELISA Kit for Collagen Type IX Alpha 3 (COL9a3) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Rattus norvegicus (Rat)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU689Ra01 Recombinant Collagen Type IX Alpha 3 (COL9a3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU689Ra01 Monoclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IP.
PAU689Ra01 Polyclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IF.
Assay Kits CLU689Ra01 CLIA Kit for Collagen Type IX Alpha 3 (COL9a3) CLIA assay for Antigen Detection
ELU689Ra01 ELISA Kit for Collagen Type IX Alpha 3 (COL9a3) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Canis familiaris; Canine (Dog)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU689Ca01 Recombinant Collagen Type IX Alpha 3 (COL9a3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU689Ca01 Monoclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IP.
PAU689Ca01 Polyclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IF.
Assay Kits CLU689Ca01 CLIA Kit for Collagen Type IX Alpha 3 (COL9a3) CLIA assay for Antigen Detection
ELU689Ca01 ELISA Kit for Collagen Type IX Alpha 3 (COL9a3) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Sus scrofa; Porcine (Pig)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU689Po01 Recombinant Collagen Type IX Alpha 3 (COL9a3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU689Po01 Monoclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IP.
PAU689Po01 Polyclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IF.
Assay Kits CLU689Po01 CLIA Kit for Collagen Type IX Alpha 3 (COL9a3) CLIA assay for Antigen Detection
ELU689Po01 ELISA Kit for Collagen Type IX Alpha 3 (COL9a3) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Bos taurus; Bovine (Cattle)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU689Bo01 Recombinant Collagen Type IX Alpha 3 (COL9a3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU689Bo01 Monoclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IP.
PAU689Bo01 Polyclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IF.
Assay Kits CLU689Bo01 CLIA Kit for Collagen Type IX Alpha 3 (COL9a3) CLIA assay for Antigen Detection
ELU689Bo01 ELISA Kit for Collagen Type IX Alpha 3 (COL9a3) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Oryctolagus cuniculus (Rabbit)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU689Rb01 Recombinant Collagen Type IX Alpha 3 (COL9a3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU689Rb01 Monoclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IP.
PAU689Rb01 Polyclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IF.
Assay Kits CLU689Rb01 CLIA Kit for Collagen Type IX Alpha 3 (COL9a3) CLIA assay for Antigen Detection
ELU689Rb01 ELISA Kit for Collagen Type IX Alpha 3 (COL9a3) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Rhesus monkey (Simian)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU689Mo01 Recombinant Collagen Type IX Alpha 3 (COL9a3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU689Mo01 Monoclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IP.
PAU689Mo01 Polyclonal Antibody to Collagen Type IX Alpha 3 (COL9a3) WB; IHC; ICC; IF.
Assay Kits CLU689Mo01 CLIA Kit for Collagen Type IX Alpha 3 (COL9a3) CLIA assay for Antigen Detection
ELU689Mo01 ELISA Kit for Collagen Type IX Alpha 3 (COL9a3) Enzyme-linked immunosorbent assay for Antigen Detection

Reference

"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]

"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]

"The DNA sequence and comparative analysis of human chromosome 20."
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"COL9A3: A third locus for multiple epiphyseal dysplasia."
Am. J. Hum. Genet. 64:1036-1044(1999) [PubMed] [Europe PMC] [Abstract]

Erratum
Am. J. Hum. Genet. 65:1214-1214(1999)

"Identification of a novel common genetic risk factor for lumbar disk disease."
JAMA 285:1843-1849(2001) [PubMed] [Europe PMC] [Abstract]

"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]

"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]