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Search results 1 to 1 out of 1 for Sbf2

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Domain
Description: This domain is found in eukaryotes, and is approximately 220 amino acids in length. It is found in association with , . It is found is the middle region of SBF1 and SBF2, members of the myotubularin family. Myotubularin-related proteins have been suggested to work in phosphoinositide-mediated signalling events that may also convey control of myelination. Mutations of SBF2 are implicated in Charcot-Marie-Tooth disease []. SBF2 is a guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 [, ].