Aliases for BOLA3 Gene
External Ids for BOLA3 Gene
Previous GeneCards Identifiers for BOLA3 Gene
This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]
GeneCards Summary for BOLA3 Gene
BOLA3 (BolA Family Member 3) is a Protein Coding gene. Diseases associated with BOLA3 include Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia and Multiple Mitochondrial Dysfunctions Syndrome 2.
UniProtKB/Swiss-Prot for BOLA3 Gene
Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins. Probably acts together with NFU1 (PubMed:27532772).