Musculin

Alternative Names

  • MSC
  • Activated B-Cell Factor 1
  • ABF1
  • Myogenic Repressor
  • MYOR
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OMIM Number

603628

NCBI Gene ID

9242

Uniprot ID

O60682

Length

2,853 bases

No. of Exons

2

Protein Name

Musculin

Molecular Mass

22068 Da

Amino Acid Count

206

Genomic Location

chr8:71,841,559-71,844,411

Gene Map Locus
8q13.3

Description

The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000008.11:g.71601993T>GUnited Arab EmiratesNC_000008.11:g.71601993T>GAssociationType 2 Diabetes Mellitus; Obesity12679556
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