Solute carrier family 26 member 2 (IPR030280)
Short name: SLC26A2
Overlapping homologous superfamilies
- SLC26A/SulP transporter (IPR001902)
- Solute carrier family 26 member 2 (IPR030280)
Solute carrier family 26 member A2 (SLC26A2), also known as Diastrophic Dysplasia Protein (DTD or DTDST) is a SO4(2-)/OH-/Cl- exchanger regulated by extracellular Cl- [PMID: 22190686]. SLC26A2 is activated by IGF-1 (Insulin-like Growth Factor 1) to regulate chondrocyte proliferation and differentiation, proteoglycan synthesis and size [PMID: 24302720].
Mutations in the SLC26A2 gene cause Diastrophic dysplasia (DTD), a autosomal recessive disease characterised by osteochondrodysplasia [PMID: 15703192]. Mutations in the SLC26A2 gene also cause Achondrogenesis 1B (ACG1B) [PMID: 8528239], a lethal form of chondrodysplasia, and multiple epiphyseal dysplasia 4 (EDM4), a generalised skeletal dysplasia associated with significant morbidity [PMID: 12966518].
- PTHR11814:SF16 (PTHR11814:SF16)