Protein Domain : IPR030280

Type:  Family Name:  Solute carrier family 26 member 2
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- []. SLC26A2 is activated by IGF-1 (Insulin-like Growth Factor 1) to regulate chondrocyte proliferation and differentiation, proteoglycan synthesis and size [].Mutations in the SLC26A2 gene cause Diastrophic dysplasia (DTD), a autosomal recessive disease characterised by osteochondrodysplasia []. Mutations in the SLC26A2 gene also cause Achondrogenesis 1B (ACG1B) [], a lethal form of chondrodysplasia, and multiple epiphyseal dysplasia 4 (EDM4), a generalised skeletal dysplasia associated with significant morbidity []. Short Name:  SLC26A2
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0 Child Features

0 Contains

1 Cross References

Identifier
PTHR11814:SF16

0 Found In

4 GO Annotations

GO Term Gene Name
GO:0015116 IPR030280
GO:0001503 IPR030280
GO:0006811 IPR030280
GO:1902358 IPR030280

4 Ontology Annotations

GO Term Gene Name
GO:0015116 IPR030280
GO:0001503 IPR030280
GO:0006811 IPR030280
GO:1902358 IPR030280

1 Parent Features

DB identifier Type Name
IPR001902 Family SLC26A/SulP transporter

0 Proteins

5 Publications

First Author Title Year Journal Volume Pages PubMed ID
            22190686
            24302720
            8528239
            12966518
            15703192