SLC26A2
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The SLC26A2 protein is a member of the solute carrier family. In humans, this transporter is encoded by the SLC26A2 gene.[1]
Function
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 extracellular matrix organization.[2]
Clinical significance
Deficiencies are associated with many forms of osteochondrodysplasia.[3] These include:
- achondrogenesis type 1B
- diastrophic dysplasia
- atelosteogenesis, type II
- recessive multiple epiphyseal dysplasia
References
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Further reading
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External links
- Lua error in package.lua at line 80: module 'strict' not found. In Lua error in package.lua at line 80: module 'strict' not found.
- Online 'Mendelian Inheritance in Man' (OMIM) Epiphyseal Dysplasia, Multiple, 1; EDM1 -132400
- Online 'Mendelian Inheritance in Man' (OMIM) Pendred Syndrome; PDS -274600
- Online 'Mendelian Inheritance in Man' (OMIM) Epiphyseal Dysplasia, Multiple, 4; EDM4 -226900
- Online 'Mendelian Inheritance in Man' (OMIM) Solute Carrier Family 26 (Sulfate Transporter), Member 2; SLC26A2 -606718
- Lua error in package.lua at line 80: module 'strict' not found. In GeneReviews
- Lua error in package.lua at line 80: module 'strict' not found. In GeneReviews
- SLC26A2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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