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This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: bolA homolog 3; BolA-like protein 3
基因别名: BOLA3; MMDS2
UniProt ID: (Human) Q53S33
Entrez Gene ID: (Human) 388962