Entrez gene ID | | 1729 |
Official gene symbol | | DIAPH1 |
Full name | | diaphanous homolog 1 (Drosophila) |
Aliases | | ,DFNA1,DIA1,DRF1,FLJ25265,LFHL1,hDIA1, |
Gene summary | | This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 5 Locus: 5q31 |
Gene position | | 140998622 - 140894588 Map Viewer |
Gene orientation | | minus |
Gene size | | 104035 bp |
Gene sequence |
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OMIM ID | | 602121 |
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