MECR gene

mitochondrial trans-2-enoyl-CoA reductase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]

From UniProt:

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. Has a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA (C6), trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16).

From NCBI Gene:

  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

From UniProt:

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. [MIM:617282]

Cytogenetic Location: 1p35.3, which is the short (p) arm of chromosome 1 at position 35.3

Molecular Location: base pairs 29,192,657 to 29,230,958 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p35.3, which is the short (p) arm of chromosome 1 at position 35.3
  • CGI-63
  • DYTOABG
  • ETR1
  • FASN2B
  • NRBF1