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. [provided by RefSeq, Jul 2015]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
IBA57-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
IBA57-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
IBA57-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
IBA57-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
IBA57-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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. [provided by RefSeq, Jul 2015]
Gene Symbol : IBA57
Gene Name : IBA57 homolog, iron-sulfur cluster assembly
Chromosome : CHR 1: 228,165,807-228,182,256
Locus : 1q42.13
Alt. Genes : LRPPRC
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