| 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) |
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