Analysis of IBA57 Gene (Mutation) in Hereditary Spastic Paraplegia by RT-qPCR (CAT#: STEM-MT-0201-LGZ)

Introduction

Also known as: MMDS3; SPG74; C1orf69
The protein encoded by this gene localizes to mitochondria and is part of the iron-sulfur cluster assembly pathway. The encoded protein plays a late role in the biosynthesis of mitochondrial 4Fe-4S protein. Defects in this gene are associated with autosomal recessive spastic paraplegia-74 and multiple mitochondrial dysfunction syndrome-3. Two transcript variants of this gene have been found to encode different isoforms. The smaller isoform is less likely to localize to the mitochondria because it lacks the amino-terminal transit peptide.