Gene Symbol | DIAPH1 |
Entrez Gene ID | 1729 |
Full Name | diaphanous related formin 1 |
Synonyms | DFNA1,DIA1,DRF1,LFHL1,SCBMS,hDIA1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal dominant 1, 124900 (3); Seizures, cortical blindness, microcephaly syndrome, 616632 (3) |