C207947Level 5
SLC26A4 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human SLC26A4 wild-type allele is located in the vicinity of 7q22.3 and is approximately 57 kb in length. This allele, which encodes pendrin protein, is involved in the transmembrane transport of chloride, iodide, bicarbonate and formate. Mutations in the gene are associated with Pendred syndrome and autosomal recessive deafness 4.
**Synonyms:** - DFNB4 - Deafness, Autosomal Recessive 4 Gene - EVA - PDS - Pendred Syndrome Gene - Pendrin 2 Gene - Solute Carrier Family 26 (Anion Exchanger), Member 4 Gene - Solute Carrier Family 26 Member 4 wt Allele - Solute Carrier Family 26, Member 4 Gene - TDH2B
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Cross-system equivalences0
No cross-system equivalences mapped for this node.