Gene Symbol | SBF1 |
Entrez Gene ID | 6305 |
Full Name | SET binding factor 1 |
Synonyms | CMT4B3,DENND7A,MTMR5 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Dec 2014]. |
Disorder MIM: | |
Disorder Html: | Charcot-Marie-Tooth disease, type 4B3, 615284 (3) |