SET-Binding Factor 1

Alternative Names

  • SBF1
  • Myotubularin-Related Protein 5
  • MTMR5
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OMIM Number

603560

NCBI Gene ID

6305

Uniprot ID

O95248

Length

30,036 bases

No. of Exons

42

No. of isoforms

3

Protein Name

Myotubularin-related protein 5

Molecular Mass

208443 Da

Amino Acid Count

1868

Genomic Location

chr22:50,444,999-50,475,034

Gene Map Locus
22q13.33

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002972.3:c.1004T>CLebanon; SyriaNC_000022.11:g.50465968A>GLikely PathogenicCharcot-Marie-Tooth Disease, Type 4B3NG_041810.1:g.14095T>C; NM_002972.3:c.1004T>C; NP_002963.2:p.Leu335Pro
NM_002972.4:c.1327G>ASaudi ArabiaNC_000022.11:g.50465006C>TLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicCharcot-Marie-Tooth Disease, Type 4B3NG_041810.1:g.15066G>A; NM_002972.4:c.1327G>A; NP_002963.2:p.Asp443Asn690016543162096
NM_002972.4:c.2570-1G>TSaudi ArabiaNC_000022.11:g.50461870C>APathogenicCharcot-Marie-Tooth Disease, Type 4B3NG_041810.1:g.18202G>T; NM_002972.4:c.2570-1G>T
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