Diaphanous Homolog 1 (DIAPH1)

DIAPH1 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.

This human homolog of diaphanous has approximately 3,800 bp of coding sequence and a 3-prime untranslated region (UTR) of 918 or 1,891 bp.expressed in brain, heart, placenta, lung, kidney, pancreas, liver, and skeletal muscle. A single transcript of 4.7 kb was observed in all tissues, with highest expression in skeletal muscle.