DIAPH1

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, Jul 2008]

Description

diaphanous related formin 1

Protein family

Cancer-related genes, Disease related genes, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

5:q31.3 (141515016 - 141619055)

Ensembl ID

ENSG00000131504  (ver. 84.38)

Orthologs

Mouse Diaph1: ENSMUSG00000024456

UniProt

O60610

neXtProt

NX_O60610

Human splice variants
Mouse splice variants