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Centre for Arab Genomic Studies a Division of Sheikh Hamdan Award for Medical Sciences Centre for Arab Genomic Studies A Division of Sheikh Hamdan Award for Medical Sciences The atalogue for ransmission enetics in rabs C T G A CTGA Database F-Box Only Protein 32 Alternative Names However, additional research is needed to confirm FBXO32 this theory. Muscle Atrophy F-Box MAFBX Molecular Genetics Atrophy Gene 1 The 43 kb long FBXO32 gene is located on ATROGIN1 chromosome 8 at position 8q24.13. Its coding FLJ32424 sequence is made up of nine exons. The gene encodes a 41 kDa FBXO32 protein that consists of Record Category 355 amino acids. Alternative splicing results in two Gene locus different isoforms. The gene is found to be selectively expressed in cardiac and skeletal muscle WHO-ICD cells. N/A to gene loci Epidemiology in the Arab World Incidence per 100,000 Live Births N/A to gene loci Saudi Arabia Al-Hassnan et al. (2016) reported a consanguineous OMIM Number family where four siblings were found to have 606604 dilated cardiomyopathy. Homozygosity mapping, linkage analysis and whole exome sequencing Mode of Inheritance helped uncover a variant in the FBXO32 gene; a N/A to gene loci homozygous c.727G>C mutation in the F-box domain, resulting in a p.Gly243Arg substitution. Gene Map Locus The parents were found to be heterozygous for this 8q24.13 mutation. The variant was not seen in 1986 ethnically-matched chromosomes. The mutation Description occurred at a highly conserved residue and in-silico FBXO32 encodes a protein belonging to the F-Box analysis predicted it to have a damaging or Only (FBXO) family of proteins. This family is deleterious effect on protein function. A biopsy of characterized by an approximately 50 amino acid the proband’s left ventricular myocardial tissue also long motif, the F box. By linking with other showed a reduced expression of FBXO32 protein components through the F box, The FBXO32 compared to healthy control tissues. The study protein forms the SCF (Skp1, Cullin-1, F-box) E3 suggests that FBXO32 is a candidate gene for ubiquitin ligase complex. The function of the SCF recessive DCM and that genes encoding other ubiquitin ligase is to mediate the ubiquitination and ubiquitin ligases could also be associated with subsequent proteasomal degradationof target cardiomyopathy. proteins. References Animal studies have helped further elucidate the Al-Hassnan ZN, Shinwari ZM, Wakil SM, Tulbah role of this gene. It was found that in mice, S, Mohammed S, Rahbeeni Z, Alghamdi M, FBXO32 plays a critical role in muscle atrophy. Rababh M, Colak D, Kaya N, Al-Fayyadh M, Also, FBXO32 knockout mice have been shown to Alburaiki J. A substitution mutation in cardiac develop cardiomyopathy due to intracellular protein ubiquitin ligase, FBXO32, is associated with an accumulation and cardiomyocyte apoptosis. These autosomal recessive form of dilated findings suggest a possible role of FBXO32 in the cardiomyopathy. BMC Med Genet. 2016; 17:3. development of cardiomyopathy in humans. PMID: 26768247. Copyright © Centre for Arab Genomic Studies 1 Related CTGA Records https://www.ncbi.nlm.nih.gov/gene/114907 Cardiomyopathy, Dilated, 1A Contributors External Links Sayeeda Hana: 13.10.2016 https://www.genecards.org/cgi- bin/carddisp.pl?gene=FBXO32 Copyright © Centre for Arab Genomic Studies 2 .
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