ME1

Chr 6

malic enzyme 1

Also known as: HUMNDME, MES

NCBI Gene: 4199 ENSG00000065833 UniProt: P48163 OMIM: 154250

The protein catalyzes the oxidative decarboxylation of malate to generate NADPH for fatty acid biosynthesis and links glycolytic and citric acid cycles. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy. This gene is highly intolerant to loss-of-function variants, affecting central nervous system development and metabolic pathways.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.17

LOEUF

Mechanism· predicted