DIAPH1( Human )

Entrez Gene 1729 Entrez Gene 1729
diaphanous related formin 1

Alias

DFNA1|DIA1|DRF1|LFHL1|SCBMS|hDIA1

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. [provided by RefSeq, Jul 2008].

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