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]
Alternative Names
a formin related polyproline protein diaphanous 1 diaphanous homolog 1 diaphanous-1 FLJ25265 mammalian diaphanous related formin 1 p140DIA similar to Drosophila diaphanous