Species Human Entrez 1729 | Human Mouse Ensembl ENSG00000131504 | |
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Aliases DIAPH1, DFNA1, DIA1, DRF1, LFHL1, hDIA1, SCBMS, diaphanous related formin 1 External IDs MGI: 1194490 HomoloGene: 129567 GeneCards: DIAPH1 | ||
Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene.
Contents
Function
This gene is a homolog of the Drosophila diaphanous gene and belongs to the protein family of the formins, characterized by the formin homology 2 (FH2) domain. It 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.
Interactions
DIAPH1 has been shown to interact with RHOA.