[KD Validated] DIAPH1 Rabbit pAb

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. Synonyma: DIA1, DRF1, DFNA1, LFHL1, SCBMS, hDIA1, mDia1, [KD Validated] DIAPH1