Reactivities: | Human |
Presku: | AAP63910 |
Size: | 100ug |
Weight: | 141kDa |
Gene: | 1729 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | DFNA1; DIA1; DRF1; FLJ25265; LFHL1; hDIA1 |