靶标:
IBA57
产品别名:
C1orf69; MMDS3; SPG74; IBA57; iron-sulfur cluster assembly factor IBA57; iron-sulfur cluster assembly factor IBA57; putative transferase CAF17, mitochondrial; IBA57 homolog, iron-sulfur cluster assembly; IBA57, iron-sulfur cluster assembly homolog; iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa; putative transferase C1orf69, mitochondrial; 1号染色体开放阅读框69;
背景信息:
The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide.