SBF1

SET binding factor 1

22q13.33

Also known as: CMT4B3, DENND7A, MTMR5

Gene Summary

RefSeq / NCBI

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]

External Resources

WUSTL Neuromuscular

Washington University Disease Center

ClinGen

Clinical Genome Resource

G2P

Gene-to-Phenotype (EBI)

GeneReviews

NCBI Expert-Authored Reviews

NCBI Gene

National Center for Biotechnology Information

PubMed

Biomedical Literature

UniProt

Universal Protein Resource

DECIPHER

DatabasE of genomiC varIation and Phenotype in Humans

Gene data compiled from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.