Gene Symbol | DIAPH3 |
Entrez Gene ID | 81624 |
Full Name | diaphanous related formin 3 |
Synonyms | AN,AUNA1,DIA2,DRF3,NSDAN,diap3,mDia2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. |
Disorder MIM: | |
Disorder Html: | Auditory neuropathy, autosomal dominant, 1, 609129 (3) |