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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
MCEE-related disorder	Pathogenic	rs111033538	RCV004758586
Methylmalonic acidemia	Pathogenic	rs111033538	RCV003486541
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Pathogenic; Likely pathogenic	rs111033538, rs1321542648, rs2465917425, rs146603886, rs2465931432, rs1359411004	RCV000002434 RCV003152404 RCV003499961 RCV003499455 RCV003604443 RCV003855588

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs192296685	RCV005913862

Associations from Text Mining
Disease Name	Relationship Type	References
Dementia	Associate	31146325
Methylmalonic acidemia	Associate	30682498, 31146325
Methylmalonyl CoA Epimerase Deficiency	Inhibit	29104221, 30682498
Methylmalonyl CoA Epimerase Deficiency	Associate	29104221, 30682498, 31146325
Neoplasms	Associate	35361954
Parkinson Disease	Associate	31146325
Stroke	Associate	31146325