人 BCS1L (NM_001257344) cDNA克隆

Accession: NM_001257344
基因名称: BCS1L
基因别名: BCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; GRACILE; Hs.6719
基因描述: Homo sapiens BC1 (ubiquinol-cytochrome c reductase) synthesis-like (BCS1L), transcript variant 5, mRNA.
种属: Human
CDS区长度: 1260 (查看编码区序列)
翻译后氨基酸长度: 419 (查看氨基酸序列)
Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
产品编号 产品名称 载体 规格 价格
G110870 人 BCS1L (NM_001257344) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012]