人 BOLA3 (NM_001035505) cDNA克隆

Accession: NM_001035505
基因名称: BOLA3
基因别名: MMDS2
基因描述: Homo sapiens bolA family member 3 (BOLA3), transcript variant 2, mRNA.
种属: Human
CDS区长度: 306 (查看编码区序列)
翻译后氨基酸长度: 101 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an internal coding exon compared to variant 1. This results in a frame-shift and a shorter isoform (2) with a distinct C-terminus compared to isoform 1. This isoform is localized to the cytoplasm (PMID:21944046).
产品编号 产品名称 载体 规格 价格
G151631 人 BOLA3 (NM_001035505) 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]