Reaction: SLC26A4 does not transport I- from cytosol to extracellular region
- in pathway: Defective SLC26A4 causes Pendred syndrome (PDS)
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. Mutations causing PDS include F667C, L236P, T416P, E384G and H723R (Everett et al. 1997, Van Hauwe et al. 1998, Coyle et al. 1998, Usami et al. 1999).
Reaction - small molecule participants:
I- [cytosol]
Reactome.org reaction link: R-HSA-5627870
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Reaction input - small molecules:
iodide
Reaction output - small molecules:
Reactome.org link: R-HSA-5627870