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Details on Person Solute carrier (SLC) genes that code chloride (Cl-)/bicarbon...
| Class:Id | Summation:5627828 |
|---|---|
| _displayName | Solute carrier (SLC) genes that code chloride (Cl-)/bicarbon... |
| _timestamp | 2014-10-23 08:15:40 |
| created | [InstanceEdit:5627846] Jassal, Bijay, 2014-10-23 |
| text | Solute carrier (SLC) genes that code chloride (Cl-)/bicarbonate (HCO3-) exchanger proteins are in the SLC4 and SLC26 families. SLC26A4 (pendrin) is thought to act as a chloride/anion exchanger but in the thyroid and inner ear, it also contributes to the conditioning of the endolymphatic fluid by mediating iodide (I-) transport. Defects in SLC26A4 can cause Pendred syndrome (PDS; MIM:274600), an autosomal recessive disorder characterised by congenital sensorineural hearing loss in association with thyroid goiter (Choi et al. 2011, Pesce & Kopp 2014). |
| (summation) | [Pathway:5619046] Defective SLC26A4 causes Pendred syndrome (PDS) [Homo sapiens] |
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No pathways have been reviewed or authored by Solute carrier (SLC) genes that code chloride (Cl-)/bicarbon... (5627828)
