MCEE (methylmalonyl-CoA epimerase)

Gene

• Entrez ID: 84693
• Gene name: Methylmalonyl-CoA epimerase
• Gene symbol: MCEE
• Synonyms (NCBI Gene): GLOD2, MCE, MMCE
• Chromosome: 2
• Chromosome location: 2p13.3
• Summary: 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 de

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs111033538	G>A,C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs138436961	G>A	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs147401037	T>G	Likely-benign, pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1136785	hsa-miR-3607-3p	CLIP-seq
MIRT1136786	hsa-miR-3686	CLIP-seq
MIRT1136787	hsa-miR-4652-3p	CLIP-seq
MIRT1136788	hsa-miR-4760-3p	CLIP-seq
MIRT1136789	hsa-miR-622	CLIP-seq
MIRT2038902	hsa-miR-3119	CLIP-seq
MIRT2038903	hsa-miR-4275	CLIP-seq
MIRT2038904	hsa-miR-4775	CLIP-seq
MIRT2038902	hsa-miR-3119	CLIP-seq
MIRT2038903	hsa-miR-4275	CLIP-seq
MIRT2038904	hsa-miR-4775	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004493	Function	Methylmalonyl-CoA epimerase activity	IBA
GO:0004493	Function	Methylmalonyl-CoA epimerase activity	IDA	11481338
GO:0004493	Function	Methylmalonyl-CoA epimerase activity	IEA
GO:0004493	Function	Methylmalonyl-CoA epimerase activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 31515488, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0016853	Function	Isomerase activity	IEA
GO:0019626	Process	Short-chain fatty acid catabolic process	TAS
GO:0046491	Process	L-methylmalonyl-CoA metabolic process	IBA
GO:0046491	Process	L-methylmalonyl-CoA metabolic process	IDA	11481338
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 608419
• HGNC: 16732
• e!Ensembl: ENSG00000124370

Protein

• UniProt ID: Q96PE7
• Protein name: Methylmalonyl-CoA epimerase, mitochondrial (EC 5.1.99.1) (DL-methylmalonyl-CoA racemase)
• Protein function: Methylmalonyl-CoA epimerase involved in propionyl-CoA metabolism.
• PDB: 3RMU, 6QH4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13669	Glyoxalase_4	49 → 160		Family

• Sequence:

  MARVLKAAAANAVGLFSRLQAPIPTVRASSTSQPLDQVTGSVWNLGRLNHVAIAVPDLEK
  AAAFYKNILGAQVSEAVPLPEHGVSVVFVNLGNTKMELLHPLGRDSPIAGFLQKNKAGGM
  HHICIEVDNINAAVMDLKKKKIRSLSEEVKIGAHGKPVIFLHPKDCGGVLVELEQA

• Sequence length: 176

Pathways

KEGG:

Valine, leucine and isoleucine degradation
Glyoxylate and dicarboxylate metabolism
Propanoate metabolism
Metabolic pathways
Carbon metabolism

Reactome:

Propionyl-CoA catabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
MCEE-related disorder	Pathogenic	rs111033538	RCV004758586	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylmalonic acidemia	Pathogenic	rs111033538	RCV003486541	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Pathogenic; Likely pathogenic	rs111033538, rs1321542648, rs2465917425, rs146603886, rs2465931432, rs1359411004	RCV000002434 RCV003152404 RCV003499961 RCV003499455 RCV003604443 RCV003855588	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COENZYME A EPIMERASE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Dementia	Dementia	Pubtator	31146325	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency	Dopa-responsive dystonia	BEFREE	29104221		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	16697227		★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	30682498, 31146325	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Methylmalonic Aciduria	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonyl-CoA Epimerase Deficiency	Methylmalonyl-CoA Epimerase Deficiency	CLINVAR_DG	16697227, 16752391, 17823972, 25763508, 27699154, 29104221		★☆☆☆☆ Found in Text Mining only
Methylmalonyl-CoA Epimerase Deficiency	Methylmalonyl-CoA Epimerase Deficiency	GENOMICS_ENGLAND_DG	16752391, 17823972, 27604308		★☆☆☆☆ Found in Text Mining only
Methylmalonyl-CoA Epimerase Deficiency	Methylmalonyl-CoA Epimerase Deficiency	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Methylmalonyl-CoA Epimerase Deficiency	Methylmalonyl-CoA Epimerase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31146325	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	31146325	Associate	★☆☆☆☆ Found in Text Mining only