- accession:NM_001280787
- 基因别名:SURF1
- 基因描述:Homo sapiens surfeit 1 (SURF1), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:576
- 翻译后氨基酸长度:191
- TranscriptVariant:This variant (2) lacks an exon in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
- 基因简介:This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]
- 规格:10ul 质粒
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