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  • Human FBXL4 wild-type allele is located within 6q16.1-q16.2 and is approximately 79 kb in length. This allele, which encodes F-box/LRR-repeat protein 4, plays a role in the promotion of ubiquitination and the maintenance of mitochondrial DNA. Missense and nonsense mutations in the gene are associated with autosomal recessive mitochondrial DNA depletion syndrome 13.
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