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Aliases for MCEE Gene

Aliases for MCEE Gene

  • Methylmalonyl-CoA Epimerase 2 3 5
  • Glyoxalase Domain Containing 2 2 3
  • DL-Methylmalonyl-CoA Racemase 3 4
  • Methylmalonyl-CoA Epimerase, Mitochondrial 3
  • EC 4
  • GLOD2 3

External Ids for MCEE Gene

Previous GeneCards Identifiers for MCEE Gene

  • GC02M071346
  • GC02M071547
  • GC02M071311
  • GC02M071248
  • GC02M071190
  • GC02M071336

Summaries for MCEE Gene

Entrez Gene Summary for MCEE Gene

  • The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]

GeneCards Summary for MCEE Gene

MCEE (Methylmalonyl-CoA Epimerase) is a Protein Coding gene. Diseases associated with MCEE include Methylmalonyl-Coa Epimerase Deficiency and Methylmalonic Aciduria, Cblb Type. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Metabolism. Gene Ontology (GO) annotations related to this gene include methylmalonyl-CoA epimerase activity.

Additional gene information for MCEE Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCEE Gene

Genomics for MCEE Gene

GeneHancer (GH) Regulatory Elements for MCEE Gene

Promoters and enhancers for MCEE Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I071128 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 559 -0.4 -417 4.4 ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC ZC3H11A SSRP1 MPHOSPH10 MCEE TEX261 TIA1 ZNF638 NAGK ANKRD53 CLEC4F LOC101060051
GH02I071101 Enhancer 0.8 Ensembl ENCODE 8.2 +27.6 27631 2.9 USF1 FOXA2 SAP130 FOXA3 CEBPB ARID4B USF2 MITF FOS NR2F6 NAGK MCEE GC02P071084
GH02I071121 Enhancer 0.6 ENCODE dbSUPER 0.4 +8.5 8491 0.6 FOXA2 ARID4B MCEE GC02P071084
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MCEE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MCEE gene promoter:

Genomic Locations for MCEE Gene

Genomic Locations for MCEE Gene
20,613 bases
Minus strand

Genomic View for MCEE Gene

Genes around MCEE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCEE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCEE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCEE Gene

Proteins for MCEE Gene

  • Protein details for MCEE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Methylmalonyl-CoA epimerase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q53TP1
    • Q8WW63

    Protein attributes for MCEE Gene

    176 amino acids
    Molecular mass:
    18749 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MCEE Gene

neXtProt entry for MCEE Gene

Post-translational modifications for MCEE Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MCEE Gene

No data available for DME Specific Peptides for MCEE Gene

Domains & Families for MCEE Gene

Gene Families for MCEE Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for MCEE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glyoxalase I family.
  • Belongs to the glyoxalase I family.
genes like me logo Genes that share domains with MCEE: view

Function for MCEE Gene

Molecular function for MCEE Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(R)-methylmalonyl-CoA = (S)-methylmalonyl-CoA.

Enzyme Numbers (IUBMB) for MCEE Gene

Phenotypes From GWAS Catalog for MCEE Gene

Gene Ontology (GO) - Molecular Function for MCEE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004493 methylmalonyl-CoA epimerase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0016853 isomerase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MCEE: view
genes like me logo Genes that share phenotypes with MCEE: view

Human Phenotype Ontology for MCEE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MCEE

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MCEE Gene

Localization for MCEE Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCEE Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCEE gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MCEE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MCEE: view

Pathways & Interactions for MCEE Gene

genes like me logo Genes that share pathways with MCEE: view

Gene Ontology (GO) - Biological Process for MCEE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019626 short-chain fatty acid catabolic process TAS --
GO:0046491 L-methylmalonyl-CoA metabolic process IDA 11481338
genes like me logo Genes that share ontologies with MCEE: view

No data available for SIGNOR curated interactions for MCEE Gene

Drugs & Compounds for MCEE Gene

(7) Drugs for MCEE Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for MCEE Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (R)-methylmalonyl-CoA
  • (R)-methylmalonyl-Coenzyme A
  • (S)-2-Methyl-3-Oxopropanoyl-Coa
  • (S)-methyl-malonyl-CoA
  • (S)-methyl-malonyl-Coenzyme A
  • (S)-Methylmalonyl-CoA
  • (S)-Methylmalonyl-Coenzyme A
genes like me logo Genes that share compounds with MCEE: view

Transcripts for MCEE Gene

Unigene Clusters for MCEE Gene

Methylmalonyl CoA epimerase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MCEE

Alternative Splicing Database (ASD) splice patterns (SP) for MCEE Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b
SP1: -
SP3: - - - -

Relevant External Links for MCEE Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MCEE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MCEE Gene

Protein differential expression in normal tissues from HIPED for MCEE Gene

This gene is overexpressed in Salivary gland (13.3), Liver, secretome (9.0), Stomach (6.6), and Adrenal (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MCEE Gene

Protein tissue co-expression partners for MCEE Gene

NURSA nuclear receptor signaling pathways regulating expression of MCEE Gene:


SOURCE GeneReport for Unigene cluster for MCEE Gene:


Evidence on tissue expression from TISSUES for MCEE Gene

  • Liver(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MCEE Gene

Germ Layers:
  • endoderm
  • digestive
  • esophagus
  • stomach
genes like me logo Genes that share expression patterns with MCEE: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCEE Gene

Orthologs for MCEE Gene

This gene was present in the common ancestor of animals.

Orthologs for MCEE Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MCEE 33 34
  • 99.81 (n)
(Canis familiaris)
Mammalia MCEE 33 34
  • 88.07 (n)
(Bos Taurus)
Mammalia MCEE 33 34
  • 84.2 (n)
(Rattus norvegicus)
Mammalia Mcee 33
  • 83.9 (n)
(Mus musculus)
Mammalia Mcee 33 16 34
  • 83.14 (n)
(Monodelphis domestica)
Mammalia MCEE 34
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia MCEE 34
  • 68 (a)
(Gallus gallus)
Aves MCEE 33 34
  • 69.41 (n)
(Anolis carolinensis)
Reptilia MCEE 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mcee 33
  • 68.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11455 33
(Danio rerio)
Actinopterygii mcee 33 34
  • 69.48 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3080 33
(Caenorhabditis elegans)
Secernentea D2030.5 35
  • 70 (a)
mce-1 33 34
  • 64.87 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5894 33
Species where no ortholog for MCEE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCEE Gene

Gene Tree for MCEE (if available)
Gene Tree for MCEE (if available)

Paralogs for MCEE Gene

No data available for Paralogs for MCEE Gene

Variants for MCEE Gene

Sequence variations from dbSNP and Humsavar for MCEE Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs111033538 pathogenic, Methylmalonyl-CoA epimerase deficiency 71,124,445(-) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs115175255 likely-benign, benign, Methylmalonic acidemia, not specified, Methylmalonyl-CoA epimerase deficiency 71,110,073(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs11541017 benign, not specified, Methylmalonic acidemia 71,124,357(-) G/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs138436961 conflicting-interpretations-of-pathogenicity, Methylmalonyl-CoA epimerase deficiency 71,110,074(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs142838031 uncertain-significance, Methylmalonic acidemia 71,124,272(-) A/C coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for MCEE Gene

Variant ID Type Subtype PubMed ID
dgv6918n54 CNV loss 21841781
esv22790 CNV loss 19812545
esv2662403 CNV deletion 23128226
esv2675733 CNV deletion 23128226
esv2678453 CNV deletion 23128226
esv2720185 CNV deletion 23290073
esv2759059 CNV loss 17122850
esv2760572 CNV loss 21179565
esv3583859 CNV loss 25503493
esv3591223 CNV loss 21293372
nsv10002 CNV loss 18304495
nsv1009014 CNV gain 25217958
nsv1133067 OTHER inversion 24896259
nsv1146915 OTHER inversion 26484159
nsv2771 CNV deletion 18451855
nsv436287 CNV deletion 17901297
nsv438353 CNV loss 16468122
nsv498925 CNV loss 21111241
nsv508148 CNV deletion 20534489
nsv514075 CNV loss 21397061
nsv517762 CNV gain+loss 19592680
nsv818028 CNV loss 17921354
nsv818039 CNV loss 17921354
nsv819575 CNV gain 19587683
nsv834256 CNV gain 17160897

Variation tolerance for MCEE Gene

Residual Variation Intolerance Score: 72.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.19; 84.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCEE Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCEE Gene

Disorders for MCEE Gene

MalaCards: The human disease database

(2) MalaCards diseases for MCEE Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
methylmalonyl-coa epimerase deficiency
  • methylmalonyl-coa racemase deficiency
methylmalonic aciduria, cblb type
  • methylmalonic acidemia, cblb type
- elite association - COSMIC cancer census association via MalaCards
Search MCEE in MalaCards View complete list of genes associated with diseases


  • Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:251120]: Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. {ECO:0000269 PubMed:16752391}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MCEE

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MCEE: view

No data available for Genatlas for MCEE Gene

Publications for MCEE Gene

  1. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. (PMID: 16752391) Bikker H … Duran M (Human mutation 2006) 2 3 4 22 58
  2. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. (PMID: 16697227) Dobson CM … Gravel RA (Molecular genetics and metabolism 2006) 2 3 22 58
  3. Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism. (PMID: 16843692) Chandler RJ … Venditti CP (Molecular genetics and metabolism 2006) 2 3 22 58
  4. Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome. (PMID: 11481338) Bobik TA … Rasche ME (The Journal of biological chemistry 2001) 3 4 22 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for MCEE Gene

  • Addgene plasmids for MCEE

Sources for MCEE Gene

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