• Gene id: 84693

Gene Summary

• Gene Symbol: MCEE   Gene   UCSC   Ensembl
• Aliases: GLOD2
• Gene name: methylmalonyl-CoA epimerase
• Alternate names: methylmalonyl-CoA epimerase, mitochondrial, DL-methylmalonyl-CoA racemase, glyoxalase domain containing 2,
• Gene location: 2p13.3 (71130287: 71109683)     Exons: 4     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 608419

Protein Summary

• Protein general information: Q96PE7  
  • Name: Methylmalonyl CoA epimerase, mitochondrial (EC 5.1.99.1) (DL methylmalonyl CoA racemase)
  • Length: 176  
  • Mass: 18749
• Sequence:

  MARVLKAAAANAVGLFSRLQAPIPTVRASSTSQPLDQVTGSVWNLGRLNHVAIAVPDLEKAAAFYKNILGAQVSE
  AVPLPEHGVSVVFVNLGNTKMELLHPLGRDSPIAGFLQKNKAGGMHHICIEVDNINAAVMDLKKKKIRSLSEEVK
  IGAHGKPVIFLHPKDCGGVLVELEQA

• Structural information:
  • Protein Domains: (47..17-)
    (/note="VOC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01163"-)
  • Interpro: IPR029068  IPR017515  IPR037523  
  • Prosite: PS51819
  • CDD: cd07249
  • PDB: 3RMU 6QH4
  • PDBsum: 3RMU 6QH4
  • STRING: ENSP00000244217
• Other Databases: GeneCards:  MCEE  Malacards:  MCEE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004493	methylmalonyl-CoA epimerase activity	IBA	molecular function
GO:0046491	L-methylmalonyl-CoA metabolic process	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0004493	methylmalonyl-CoA epimerase activity	IEA	molecular function
GO:0004493	methylmalonyl-CoA epimerase activity	TAS	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0019626	short-chain fatty acid catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004493	methylmalonyl-CoA epimerase activity	IDA	molecular function
GO:0046491	L-methylmalonyl-CoA metabolic process	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00280	Valine, leucine and isoleucine degradation
hsa00630	Glyoxylate and dicarboxylate metabolism
hsa00640	Propanoate metabolism

Diseases

Associated diseases	References
Methylmalonic aciduria	KEGG:H00174
Methylmalonic aciduria	KEGG:H00174
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R