Gene Symbol | COL9A3 |
Entrez Gene ID | 1299 |
Full Name | collagen type IX alpha 3 chain |
Synonyms | DJ885L7.4.1,EDM3,IDD,MED |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes 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 type 3. [provided by RefSeq, Jan 2010]. |
Disorder MIM: | |
Disorder Html: | Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3); {Intervertebral disc disease, susceptibility to}, 603932 (3) |