Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for DIAPH1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1729
Official gene symbolDIAPH1
Full namediaphanous homolog 1 (Drosophila)
Aliases,DFNA1,DIA1,DRF1,FLJ25265,LFHL1,hDIA1,
Gene summaryThis 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]
LocationChromosome: 5   Locus: 5q31
Gene position140998622 - 140894588  Map Viewer
Gene orientationminus
Gene size104035 bp
Gene sequence
OMIM ID602121