MCAT
Function
Catalyzes the transfer of a malonyl moiety from malonyl-CoA to the free thiol group of the phosphopantetheine arm of the mitochondrial ACP protein (NDUFAB1) (PubMed:12882974, PubMed:19549604). This suggests the existence of the biosynthesis of fatty acids in mitochondria (PubMed:12882974). Also acts as a mitochondrial small ribosomal subunit (mt-SSU) assembly factor (PubMed:36482135).
Involvement in disease
Optic atrophy 15
OPA15
A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA15 is an autosomal recessive form.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Lipid metabolism; fatty acid biosynthesis.
Sequence Similarities
Belongs to the type II malonyltransferase family.
Cellular localization
- Mitochondrion
Alternative names
MT, MCAT, MCT, Mitochondrial malonyl CoA:ACP acyltransferase, Mitochondrial malonyltransferase, [Acyl-carrier-protein] malonyltransferase