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The product of the Drosophila gene diaphanous, the first member of a family of proteins, the diaphanous-related formins (Drfs; DRF1 and DRF2 in humans) that act as rho GTPase effectors during cytoskeletal remodelling. Mutations in DRF1 (DIA1) are associated with deafness, probably affecting the actin core of hair cells and mutations in DRF2 (DIA2) affect spermatogenesis or oogenesis and lead to sterility. See formins. The activity of DRFs is inhibited by an intramolecular interaction between their N-terminal regulatory region (the diaphanous inhibitor domain, DID) and a conserved C-terminal segment of 20–30 aa termed the diaphanous autoinhibitory domain (DAD).
From: diaphanous in A Dictionary of Biomedicine »
Subjects: Medicine and Health — Chemistry.
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