MECR
Function
Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but the enzyme accepts both ACP and CoA thioesters as substrates in vitro. Displays a preference for medium-chain over short- and long-chain substrates (PubMed:12654921, PubMed:18479707, PubMed:27817865). May provide the octanoyl chain used for lipoic acid biosynthesis, regulating protein lipoylation and mitochondrial respiratory activity particularly in Purkinje cells (By similarity). Involved in iron homeostasis; affecting Fe-S cluster assembly and ceramide metabolism (PubMed:37653044). Required for proper morphology and bioenergetic functions of mitochondria (PubMed:37653044). Required for maintenance of neurons (By similarity).
Involvement in disease
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
DYTOABG
An autosomal recessive neurologic disorder characterized by childhood-onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation.
None
The disease is caused by variants affecting the gene represented in this entry.
Optic atrophy 16
OPA16
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. OPA16 is an autosomal recessive form. Patients also show mild sensorineural hearing impairment.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.
Tissue Specificity
Highly expressed in skeletal and heart muscle. Expressed at lower level in placenta, liver, kidney and pancreas. Weakly or not expressed in lung.
Cellular localization
- Isoform 1
- Mitochondrion
- Isoform 2
- Cytoplasm
- Nucleus
Alternative names
NBRF1, CGI-63, MECR, 2-enoyl thioester reductase, Nuclear receptor-binding factor 1, HsNrbf-1, NRBF-1