methylmalonyl-CoA epimerase

Summary
Gene Symbol
  • MCEE
Aliases
  • GLOD2
  • MCE
  • MMCE
  • glyoxalase domain containing 2
  • methylmalonyl CoA isomerase
Organism
Homo sapiens (human)
External Links
NCBI Gene
84693
HGNC
16732
KEGG Gene ID
hsa:84693
PubChem
84693
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Cobalt
  • Isomerase
  • Metal-binding
  • Mitochondrion
  • Reference proteome
  • Transit peptide
Proteins
Displaying 1 entry
UniProt Protein Name
Q96PE7
  • DL-methylmalonyl-CoA racemase
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K05606
Name
methylmalonyl-CoA/ethylmalonyl-CoA epimerase [EC:5.1.99.1]
References
Disease
Disease Ontology
Displaying all 8 entries
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0111168 sepiapterin reductase deficiency
DOID:11963 esophagitis
DOID:13976 peptic esophagitis
DOID:14749 methylmalonic acidemia
DOID:3650 lactic acidosis
DOID:552 pneumonia
DOID:8534 gastroesophageal reflux disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 11 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001257 Spasticity
HP:0001270 Motor delay
HP:0001508 Failure to thrive
HP:0001942 Metabolic acidosis
HP:0001944 Dehydration
HP:0002020 Gastroesophageal reflux
HP:0002160 Hyperhomocystinemia
HP:0002919 Ketonuria
HP:0003593 Infantile onset
Displaying 1 entry
Disease ID Disease Name
OMIM:251120
  • methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP005114
Gene Name
methylmalonyl CoA epimerase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024