ME2 gene

malic enzyme 2

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

From NCBI Gene:

This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]

From NCBI Gene:

  • Idiopathic generalized epilepsy
  • Opioid dependence 1

Cytogenetic Location: 18q21.2, which is the long (q) arm of chromosome 18 at position 21.2

Molecular Location: base pairs 50,878,702 to 50,949,795 on chromosome 18 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 18q21.2, which is the long (q) arm of chromosome 18 at position 21.2