SBF1

Chr 22

SET binding factor 1

Also known as: CMT4B3, DENND7A, MTMR5

NCBI Gene: 6305 ENSG00000100241 UniProt: O95248

The protein is a pseudophosphatase that contains a guanine nucleotide exchange factor (GEF) domain necessary for cellular growth and differentiation, but lacks catalytic phosphatase activity due to missing amino acids in the catalytic pocket. Mutations cause Charcot-Marie-Tooth disease type 4B3, inherited in an autosomal recessive pattern. The high pLI score (0.999) and low LOEUF score (0.265) indicate the gene is highly intolerant to loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCharcot-Marie-Tooth disease, demyelinating, type 4B3

Clinical highlights

Gene-disease validity (ClinGen)

Charcot-Marie-Tooth disease type 4B3 · ARModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.27

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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