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SBF1 SET binding factor 1

Gene ID: 6305, updated on 7-Jan-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Charcot-Marie-Tooth disease type 4See labs
Charcot-Marie-Tooth disease type 4B3
MedGen: C3695063OMIM: 615284GeneReviews: Not available
See labs
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

Genomic context

Location:
22q13.33
Sequence:
Chromosome: 22; NC_000022.11 (50445000..50475035, complement)
Total number of exons:
41

Links

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