HAP1 knockout cell lines

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HAP1 Parental Cell Lines available

IBA57 ( Human )

Entrez Gene 200205 entrezgene 200205
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IBA57 homolog, iron-sulfur cluster assembly

Alias

C1orf69 | MMDS3 | SPG74

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].