DIAPH3 Antibody – Goat Polyclonal

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]

Diaphanous-3: Binds to GTP-bound form of Rho and to profilin. Acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. It is required for cytokinesis, stress fiber formation, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Defects in DIAPH3 are the cause of auditory neuropathy, autosomal dominant, type 1 (AUNA1). A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. A disease- causing mutation in the conserved 5'-UTR leads to increased protein expression (PubMed:20624953). Belongs to the formin homology family. Diaphanous subfamily. 7 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 13q21.2

Cellular Component: cell-cell adherens junction; cytosol

Disease: Auditory Neuropathy, Autosomal Dominant, 1