Gene Symbol | SLC26A4 |
Entrez Gene ID | 5172 |
Full Name | solute carrier family 26 member 4 |
Synonyms | DFNB4,EVA,PDS,TDH2B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Pendred syndrome, 274600 (3); Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3) |