SBF1, Official Symbol SBF1provided by HGNC Official Full Name SET binding factor 1provided by HGNC Primary source HGNC:HGNC:10542 See related Ensembl:ENSG00000100241 MIM:603560; AllianceGenome:HGNC:10542 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MTMR5; CMT4B3; DENND7A 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] Expression Broad expression in testis (RPKM 38.3), brain (RPKM 19.4) and 24 other tissues See more Orthologs mouse all