| Gene Symbol | SBF1 |
| Entrez Gene ID | 6305 |
| Full Name | SET binding factor 1 |
| Synonyms | CMT4B3,DENND7A,MTMR5 |
| General protein information |
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| 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) |
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