Pendrin

SLC26A4
Identifiers
Aliases	SLC26A4, DFNB4, EVA, PDS, TDH2B, solute carrier family 26 member 4
External IDs	OMIM: 605646 MGI: 1346029 HomoloGene: 20132 GeneCards: SLC26A4
Genetically Related Diseases
alcohol abuse
Gene ontology Molecular function • chloride transmembrane transporter activity • anion:anion antiporter activity • sulfate transmembrane transporter activity • secondary active sulfate transmembrane transporter activity • bicarbonate transmembrane transporter activity • oxalate transmembrane transporter activity • chloride channel activity • iodide transmembrane transporter activity Cellular component • integral component of membrane • membrane • plasma membrane • integral component of plasma membrane • brush border membrane • apical plasma membrane • extracellular exosome Biological process • sulfate transport • regulation of membrane potential • regulation of intracellular pH • chloride transmembrane transport • ion transport • sensory perception of sound • regulation of protein localization • bicarbonate transport • inorganic anion transport • anion transmembrane transport • iodide transport • transport • chloride transport • regulation of pH • oxalate transport • sulfate transmembrane transport • transmembrane transport Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5172	23985
Ensembl	ENSG00000091137	ENSMUSG00000020651
UniProt	O43511	Q9R155
RefSeq (mRNA)	NM_000441	NM_011867
RefSeq (protein)	NP_000432	NP_035997.1 NP_035997
Location (UCSC)	Chr 7: 107.66 – 107.72 Mb	Chr 12: 31.52 – 31.56 Mb
PubMed search

5172

23985

ENSG00000091137

ENSMUSG00000020651

O43511

Q9R155

NM_000441

NM_011867

NP_000432

NP_035997.1
NP_035997

Pendrin, also known as sodium-independent chloride/iodide transporter, is an antiporter anion exchanger protein that in humans is encoded by the SLC26A4 gene (solute carrier family 26, member 4). Pendrin is similar to the Band 3 transport protein found in red blood cells. Pendrin is the protein which is mutated in Pendred syndrome, which is an autosomal recessive disorder characterized by sensorineural hearing loss, goiter and a partial organification problem detectable by a positive perchlorate test.

Pendrin is responsible for mediating the electroneutral exchange of chloride (Cl⁻) for bicarbonate (HCO₃⁻) across a plasma membrane in the chloride cells of freshwater fish.

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Wikipedia