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Gene

MCEE

methylmalonyl-CoA epimerase

Summary

Cytogenetic location
2p13.3
Coordinates
Chromosome 2: 71,109,687–71,130,229 (GRCh38)
Exons
3 exons across 20.5 kb
Protein
176 amino acids
Inheritance
Autosomal recessive
Also known as
GLOD2, MCE, MMCE
MANE Select transcript
ENST00000244217.6NM_032601.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Methylmalonic & Propionic Acidemia

    • Methylmalonic AcidemiaAutosomal recessive

      Caused by variants in MMUT, MMAA, MMAB, MCEE and related cobalamin-processing genes, which can cause vomiting, poor feeding, metabolic crises, developmental problems and kidney disease.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows specialist dietary management, carnitine, vitamin B12 for responsive forms and an emergency plan, which reduces the risk of crises.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How MCEE is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where MCEE sits. MCEE and 14 genes near it on chromosome 2, from 70,619,958 to 71,619,957.Chromosome 22p13.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.370.8 Mb71 Mb71.2 Mb71.4 Mb71.6 MbADD2: 70,607,618–70,768,499, reverse strandADD2FIGLA: 70,777,310–70,790,643, reverse strandFIGLACLEC4F: 70,808,643–70,820,601, reverse strandCLEC4FCD207: 70,830,000–70,835,822, reverse strandCD207VAX2: 70,900,488–70,965,431, forward strandATP6V1B1: 70,935,771–70,965,431, forward strandATP6V1B1: 70,939,318–70,995,336, reverse strandTEX261: 70,968,325–70,994,873, reverse strandTEX261ANKRD53: 70,978,380–70,985,967, forward strandANKRD53NAGK: 71,064,344–71,079,808, forward strandNAGKMCEE: 71,109,687–71,130,229, reverse strandMCEEMPHOSPH10: 71,130,305–71,150,101, forward strandMPHOSPH10PAIP2B: 71,181,702–71,227,112, reverse strandPAIP2BZNF638: 71,276,537–71,437,183, forward strandZNF638DYSF: 71,453,495–71,686,763, forward strandDYSFDiagram of MCEE: 3 exons on the reverse strand of chromosome 2Exon 2: 4 known disease-causing sitesExon 1: 1 known disease-causing siteExon 3: 71,109,687–71,110,122, 436 basesExon 2: 71,124,206–71,124,543, 338 basesExon 1: 71,130,180–71,130,229, 50 bases3215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 0.8 kb of the gene's 20.5 kb; 531 of those bases code for the protein.

How a genome test reads MCEE

8

positions in MCEE where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 20.5 kb of MCEE, introns included, not only the 0.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MCEE gene: methylmalonyl-CoA epimerase. Retrieved 16 October 2026, from https://dantelabs.com/genes/mcee

Vancouver

Dante Labs. MCEE gene: methylmalonyl-CoA epimerase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mcee

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