Structural highlights
Disease
S26A2_HUMAN Multiple epiphyseal dysplasia type 4;Atelosteogenesis type II;Achondrogenesis type 1B;Diastrophic dysplasia. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
S26A2_HUMAN Sulfate transporter. May play a role in endochondral bone formation.[1]
References
- ↑ Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A, et al.. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell. 1994 Sep 23;78(6):1073-87. PMID:7923357 doi:10.1016/0092-8674(94)90281-x
