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: UBC, IQGAP1, WWOX, SMEK2, PRPF40A, PTPN23, COPZ1, WBP4, TCERG1, GAS7, NEDD4, KLC1, KIF5B, COPB1, ARCN1, APBB1, KLC4, UBD, gag-pol, VCAM1, GRB2, FN1, CENPA, HSPA4L, MYO1E, DCAF7, SRGAP2, XPO6, CDC7, PAX6, BAIAP2, RAC1, PKD2, RHOA, RHOC,
Protein Size: 1272