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diaph1

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Official Full Name
diaphanous-related formin 1
Background
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.
Synonyms
DIAPH1; diaphanous homolog 1 (Drosophila); DFNA1, diaphanous (Drosophila, homolog) 1; protein diaphanous homolog 1; hDIA1; LFHL1; FLJ25265; Deafness autosomal dominant 1; deafness, autosomal dominant 1; DFNA1; DIAP1; DIAP1_HUMAN; diaphanous homolog 1; Diaphanous protein homolog 1; Diaphanous related formin 1; Diaphanous-related formin-1; DRF1; low frequency hearing loss 1; p140DIA; OTTHUMP00000195047; OTTHUMP00000195048; OTTHUMP00000195049; OTTHUMP00000224777; diaphanous-related formin 1; DIA1; DIAPH2; diaphanous homolog 2

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