Synonyms: C22:RP4-579N16.2,CMT4B3,DENN/MADD domain containing 7A,DENND7A,MTMR5,Myotubularin related 5,Myotubularin-related protein 5,SET-binding factor 1
Background: This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8.