Product Overview
Description
CLPP-00150550 is recombinant human DIAPH3 protein
Applications
ELISA, Western Blot
Protein Length
Protein fragment
Nature
Recombinant Protein
Sequence
PDILNFVDDLEPLDKASKVSVETLEKNLRQMGRQLQQLEKELETFPPPEDLHDKFVTKMSRFVISAKEQYETLSKLHENMEKLYQSIIGYYAIDVKKV
Sequence Similarities
Belongs to the formin homology family. Diaphanous subfamily. Contains 1 DAD (diaphanous autoregulatory) domain. Contains 1 FH1 (formin homology 1) domain. Contains 1 FH2 (formin homology 2) domain. Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.
Target Information
Alternative Names
AN; AUNA1; Dia2; diap3; DIAP3_HUMAN; DIAPH3; Diaphanous homolog 3; Diaphanous homolog 3 (Drosophila); Diaphanous related formin 3; Diaphanous, Drosophila, homolog of, 3; Diaphanous-related formin-3; DKFZp434C0931; DKFZp686A13178; DRF3; FLJ34705; mDia2; NSDAN; OTTHUMP00000018480; Protein diaphanous homolog 3; RP11-26P21.1
Protein Function
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.
Involvement in Disease
Auditory neuropathy, autosomal dominant 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. Affected individuals typically respond to sound but have difficulties in speech discrimination. The disease is caused by variants affecting the gene represented in this entry. A disease-causing mutation in the conserved 5'-UTR leads to increased protein expression.
Shipping & Handling
Constituents
0.31% Glutathione, 0.79% Tris HCl.
Shipping
Shipped on dry ice.
