Gene Symbol | CHST3 |
Entrez Gene ID | 9469 |
Full Name | carbohydrate sulfotransferase 3 |
Synonyms | C6ST,C6ST1,HSD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]. |
Disorder MIM: | |
Disorder Html: | Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3) |