Family

Solute carrier family 26 member 2 (IPR030280)

Short name: SLC26A2

Family relationships

Description

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].

GO terms

Biological Process

GO:0006811 ion transport
GO:0001503 ossification
GO:1902358 sulfate transmembrane transport

Molecular Function

GO:0015116 sulfate transmembrane transporter activity

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER