形式 |
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.
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復(fù)溶 |
Flightless-I (Fli-I) regulates the actin assembly activity of diaphanous-related formins (DRFs) Daam1 and mDia1 in cooperation with active Rho GTPase. Higashi T, et al. J Biol Chem, 2010 May 21. PMID 20223827.Force-induced myofibroblast differentiation through collagen receptors is dependent on mammalian diaphanous (mDia). Chan MW, et al. J Biol Chem, 2010 Mar 19. PMID 20071339.Distinct roles for the actin nucleators Arp2/3 and hDia1 during NK-mediated cytotoxicity. Butler B, et al. Curr Biol, 2009 Dec 1. PMID 19913427.RhoA effector mDia1 is required for PI 3-kinase-dependent actin remodeling and spreading by thrombin in platelets. Gao G, et al. Biochem Biophys Res Commun, 2009 Jul 31. PMID 19470376.Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G, et al. Gut, 2009 Aug. PMID 19240061.
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儲(chǔ)存溶液 |
Protein diaphanous homolog 1, Diaphanous-related formin-1, DRF1, DIAPH1, DIAP1
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