SLC26A4 does not transport I- from cytosol to extracellular region

Stable Identifier
R-HSA-5627870
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
9618167 Molecular analysis of the PDS gene in Pendred syndrome

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

Hum. Mol. Genet. 1998
9398842 Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

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

Nat Genet 1997
10190331 Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

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

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

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

Hum. Mol. Genet. 1998
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
iodide transmembrane transporter activity of SLC26A4 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
sensorineural hearing loss 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
goiter 12176
Authored
Reviewed
Created
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