This antibody recognizes the endogenous mDia1 mainly around 140-150 kDa, while sometimes an additional 70 kDa can also be observed which is proposed to be a fragment of 140-150 kDa molecules.
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.
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Protein Aliases: diaphanous 1; diaphanous homolog 1; diaphanous-1; diaphanous-related formin 1; Diaphanous-related formin-1; DRF1; FLJ25265; mDIA1; p140DIA; p140mDIA; Protein diaphanous homolog 1
Gene Aliases: D18Wsu154e; DFNA1; DIA1; DIAP1; DIAPH1; DRF1; hDIA1; LFHL1; p140mDia; SCBMS