SLC26A4 does not transport I- from cytosol to extracellular region

Stable Identifier
Reaction [transition]
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
9398842 Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Baxevanis, AD, Adawi, F, Glaser, B, Sheffield, VC, Beck, JC, Heyman, M, Idol, JR, Nassir, E, Hazani, E, Buchs, A, Green, ED, Everett, LA

Nat Genet 1997
9618167 Molecular analysis of the PDS gene in Pendred syndrome

Herbrick, JA, Grueters, A, Coffey, R, Kendall-Taylor, P, Luxon, L, Tsui, LC, Trembath, RC, Gausden, E, Scherer, SW, Grossman4, A, Phelps, PD, Coyle, B, Reardon, W, Lee, J

Hum. Mol. Genet. 1998
10190331 Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

Van Camp, G, Kimberling, WJ, Shinkawa, H, Usami, S, Weston, MD, Abe, S

Hum. Genet. 1999
9618166 Two frequent missense mutations in Pendred syndrome

Ramesh, A, Van Camp, G, Cremers, CW, Willems, PJ, Bolder, C, Everett, LA, Van Hauwe, P, Coucke, P, Srisailapathy, SC, Smith, RJ, Green, ED, Ris-Stalpers, C, Dietrich, NL, de Vijlder, JJ, Kraft, ML, Otten, B, Scott, DA, Parving, A

Hum. Mol. Genet. 1998
Catalyst Activity

iodide transmembrane transporter activity of SLC26A4 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC26A4 mutants [plasma membrane]

Name Identifier Synonyms
goiter DOID:12176
sensorineural hearing loss DOID:10003 Perceptive hearing loss, Perceptive deafness [diagnos], Perceptive hearing loss or deafness, high-frequency hearing loss, central hearing loss, sensorineural hearing loss, Sensorineural Deafness, High frequency deafness, Sensory hearing loss, High Frequency Hearing Loss
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