NCIt synonyms : EVA; Pendrin 2 Gene; DFNB4; Solute Carrier Family 26 (Anion Exchanger), Member 4 Gene; PDS; Solute Carrier Family 26 Member 4 wt Allele; Deafness, Autosomal Recessive 4 Gene; Solute Carrier Family 26, Member 4 Gene; TDH2B; Pendred Syndrome Gene;
NCIt 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.;
OMIM relation