MMDS2 antikoerper, 1810056O20Rik antikoerper, bolA family member 3 antikoerper, bolA-like 3 (E. coli) antikoerper, BOLA3 antikoerper, Bola3 antikoerper
Hintergrund
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).,BOLA3,MMDS2,Signal Transduction,Endocrine & Metabolism,Mitochondrial metabolism,Oxidative phosphorylation,BOLA3