Gene Symbol | SLC26A2 |
Entrez Gene ID | 1836 |
Full Name | solute carrier family 26 member 2 |
Synonyms | D5S1708,DTD,DTDST,EDM4,MST153,MSTP157 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Diastrophic dysplasia, 222600 (3); Atelosteogenesis II, 256050 (3); Achondrogenesis Ib, 600972 (3); Epiphyseal dysplasia, multiple, 4, 226900 (3); Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3); De la Chapelle dysplasia, 256050 (3) |