人 BOLA3 (NM_212552) cDNA克隆

Accession: NM_212552
基因名称: BOLA3
基因别名: MMDS2
基因描述: Homo sapiens bolA family member 3 (BOLA3), transcript variant 1, mRNA.
种属: Human
CDS区长度: 324 (查看编码区序列)
翻译后氨基酸长度: 107 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes the longer isoform (1), which is localized to the mitochondria (PMID:21944046).
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G151632 人 BOLA3 (NM_212552) cDNA克隆 pDONR223 2ug质粒 点击询价

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 (PMID:21944046). [provided by RefSeq, Dec 2011]