Non disponible en dehors du Royaume-Uni et de l'Irlande
General description
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)
Immunogen
DIAPH1 (NP_005210, 921 a.a. ~ 1024 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceQFSEQVENIKPEIVSVTAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLLHFLAELCENDYPDVLKFPDELAHVEKAS
Physical form
Solution in phosphate buffered saline, pH 7.4
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