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.
Alias Symbols: DFNA1, DIA1, DRF1, FLJ25265, LFHL1, hDIA1
Protein Interaction Partner: CENPA,PKD2,BAIAP2,CDC7,CENPA,PAX6,PKD2,PRPF40A,RAC1,RHOA,RHOC,XPO6,APBB1,GAS7,NEDD4,PRPF40A,RHOA,SRGAP2,TCERG1,UBC,WBP4,XPO6
Protein Size: 1272