IBA57 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human IBA57 wild-type allele is located in the vicinity of 1q42.13 and is approximately 16 kb in length. This allele, which encodes iron-sulfur cluster assembly factor IBA57, mitochondrial protein, plays a role in the biosynthesis of mitochondrial 4Fe-4S proteins. Mutations in the gene are associated with autosomal recessive spastic paraplegia 74 and multiple mitochondrial dysfunctions syndrome 3.

**Synonyms:** - C1orf69 - Chromosome 1 Open Reading Frame 69 Gene - FLJ12734 - IBA57 Homolog, Iron-Sulfur Cluster Assembly Gene - IBA57, Iron-Sulfur Cluster Assembly Homolog (S. cerevisiae) Gene - IBA57, Iron-Sulfur Cluster Assembly Homolog Gene - IBA57, S. cerevisiae, Homolog of Gene - Iron-Sulfur Cluster Assembly Factor IBA57 wt Allele - Iron-Sulfur Cluster Assembly Factor for Biotin Synthase- and Aconitase-Like Mitochondrial Proteins, With a Mass of 57kDa Gene - MMDS3 - Putative Transferase C1orf69, Mitochondrial Gene - Putative Transferase CAF17, Mitochondrial Gene - SPG74