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SLC26A4

SLC26A4
Identifiers
Aliases SLC26A4, DFNB4, EVA, PDS, TDH2B, solute carrier family 26 member 4
External IDs OMIM: 605646 MGI: 1346029 HomoloGene: 20132 GeneCards: SLC26A4
RNA expression pattern
PBB GE SLC26A4 206529 x at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000441

NM_011867

RefSeq (protein)

NP_000432

NP_035997

Location (UCSC) Chr 7: 107.66 – 107.72 Mb Chr 12: 31.52 – 31.56 Mb
PubMed search

NM_000441

NM_011867

NP_000432

NP_035997

Pendrin, is an anion exchange protein that in humans is encoded by the SLC26A4 gene (solute carrier family 26, member 4). Pendrin was initially identified as a sodium-independent chloride-iodine exchanger with subsequent studies showing that it also accepts formate and bicarbonate as substrates. 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

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