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SLC26A4 mutants [plasma membrane]
Stable Identifier
R-HSA-5627871
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
plasma membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC26A4 causes Pendred syndrome (PDS) (Homo sapiens)
SLC26A4 does not transport I- from cytosol to extracellular region (Homo sapiens)
SLC26A4 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC26A4 E384G [plasma membrane]
(Homo sapiens)
SLC26A4 F667C [plasma membrane]
(Homo sapiens)
SLC26A4 H723R [plasma membrane]
(Homo sapiens)
SLC26A4 L236P [plasma membrane]
(Homo sapiens)
SLC26A4 T416P [plasma membrane]
(Homo sapiens)
Disease
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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