AIRE-1 Polyclonal Antibody, 50ul[BT-AP00311] DNA Synthesis Mutations in MT-CO1 have been

Mutations in MT-CO1 have been associated with Leber's hereditary optic neuropathy (LHON)

The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol| and is involved in the synthesis of Dol-P-Man| which is an essential glycosyl carrier lipid for C- and O-mannosylation| N- and O-linked glycosylation of proteins| and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum

It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle

The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide

AIRE-1 Polyclonal Antibody, 50ul[BT-AP00311] DNA Synthesis Mutations in MT-CO1 have beenAIRE encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The autoimmune regulator plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T cells in the thymus. Mutations in this gene cause the rare autosomal recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and