F-Box Only Protein 32

Alternative Names

  • FBXO32
  • Muscle Atrophy F-Box
  • MAFBX
  • Atrophy Gene 1
  • ATROGIN1
  • FLJ32424

Associated Diseases

Cardiomyopathy, Dilated, 1A
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OMIM Number

606604

NCBI Gene ID

114907

Uniprot ID

Q969P5

Length

43,367 bases

No. of Exons

9

No. of isoforms

2

Protein Name

F-Box Only Protein 32

Molecular Mass

41637 Da

Amino Acid Count

355

Genomic Location

chr8:123,497,886-123,541,205

Gene Map Locus
8q24.13

Description

FBXO32 encodes a protein belonging to the F-Box Only (FBXO) family of proteins.  This family is characterized by an approximately 50 amino acid long motif, the F box.  By linking with other components through the F box, The FBXO32 protein forms the SCF (Skp1, Cullin-1, F-box) E3 ubiquitin ligase complex.  The function of the SCF ubiquitin ligase is to mediate the ubiquitination and subsequent proteasomal degradationof target proteins.

Animal studies have helped further elucidate the role of this gene.  It was found that in mice, FBXO32 plays a critical role in muscle atrophy.  Also, FBXO32 knockout mice have been shown to develop cardiomyopathy due to intracellular protein accumulation and cardiomyocyte apoptosis. These findings suggest a possible role of FBXO32 in the development of cardiomyopathy in humans. However, additional research is needed to confirm this theory.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_058229.4:c.727G>CSaudi Arabiachr8:123506499PathogenicCardiomyopathy, Dilated, 1ANM_058229.4:c.727G>C; NP_478136.1:p.Gly243Arg771939133
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