MCEE - methylmalonyl-CoA epimerase Gene

Also Known as MCE; MMCE; GLOD2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84693

About MCEE

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:71,109,687-71,130,229 (from NCBI)

This gene has 5 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 12.0), kidney (RPKM 11.0) and 25 other tissues.

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 deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]

MCEE Products (1)

mRNA Protein Name
NM_032601.4 NP_115990.3 methylmalonyl-CoA epimerase, mitochondrial precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables methylmalonyl-CoA epimerase activity IDA
IDA: Inferred from direct assay
11481338 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in L-methylmalonyl-CoA metabolic process IDA
IDA: Inferred from direct assay
11481338 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MCEE Protein Structure

Glyoxalase_4

Glyoxalase_4: Glyoxalase/Bleomycin resistance protein/Dioxygenase superfamily (49 - 160)

  • 0
  • 100
  • 176 a.a.
Protein Preferred Names Protein Names

methylmalonyl-CoA epimerase, mitochondrial

  • DL-methylmalonyl-CoA racemase

MCEE Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MCEE Q96PE7 AGTRAP Homo sapiens Q6RW13-2
Validated Y2H
25910212
Intra
MCEE Q96PE7 AGTRAP Homo sapiens Q6RW13-2
Y2H Bait-Prey Pool
25910212
Intra
MCEE Q96PE7 AGTRAP Homo sapiens Q6RW13-2
Y2H Array
25910212
Intra
MCEE Q96PE7 AGTRAP Homo sapiens Q6RW13-2
Y2H Array
32296183
Intra
MCEE Q96PE7 AGTRAP Homo sapiens Q6RW13-2
Y2H Prey Pooling
32296183
Intra
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
25910212
Intra
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9-2
Y2H Bait-Prey Pool
25910212
Intra
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9-2
Y2H Array
25910212
Intra
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9-2
Y2H Prey Pooling
32296183
Intra
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9-2
Y2H Array
32296183
Intra
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9
Validated Y2H
25416956
Intra
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9
Y2H Array
25416956
Intra
MCEE Q96PE7 STX8 Homo sapiens Q9UNK0
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Methylmalonyl-Coa Epimerase Deficiency

  • Methylmalonic Acidemia Due To Methylmalonyl-Coa Epimerase Deficiency

  • Methylmalonyl-Coa Racemase Deficiency

  • Methylmalonic Aciduria Iii, Formerly

  • Mcee Deficiency

  • Methylmalonic Acidemia Due To Methylmalonyl-Coa Racemase Deficiency

  • Methylmalonic Aciduria Due To Methylmalonyl-Coa Epimerase Deficiency

  • Methylmalonic Aciduria Due To Methylmalonyl-Coa Racemase Deficiency

  • MCEED

  • Methylmalonic Aciduria Iii

  • Methylmalonic Aciduria Type 3
Methylmalonic Acidemia

  • Methylmalonic Aciduria

  • Mma

  • Acidemia, Methylmalonic

  • Isolated Methylmalonic Acidemia
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency

  • Sepiapterin Reductase Deficiency

  • Spr Deficiency

  • Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency

  • Srd

  • Drd Due To Srd

  • Dopa-Responsive Hypersomnia

  • Dyt-Spr

  • Dyt/Park-Spr

  • Sr-Deficient Drd

  • Autosomal Recessive Sepiapterin Reductase-Deficient Drd

  • Spr

  • DRDSPRD

  • Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency

  • Psychomotor Disorders
Combined Malonic And Methylmalonic Aciduria

  • CMAMMA

  • Combined Malonic And Methylmalonic Acidemia

  • Aciduria, Combined Malonic And Methylmalonic
Metabolic Acidosis
Propionic Acidemia

  • Ketotic Hyperglycinemia

  • Propionyl-Coa Carboxylase Deficiency

  • Pcc Deficiency

  • Propionicacidemia

  • Glycinemia, Ketotic

  • Hyperglycinemia With Ketoacidosis And Leukopenia

  • Ketotic Glycinemia

  • Propionic Aciduria

  • Prop

  • Acidemia, Propionic

  • PA-1

  • Ketotic Ii Glycinemia

  • Hyperglycinemia, Ketotic

  • Propionic Acidemia Type I

  • Propionic Acidemia Type Ii

  • PA-2

  • Propionicaciduria
Methylmalonic Aciduria, Cbla Type

  • Methylmalonic Acidemia Cbla Type

  • Methylmalonic Aciduria Cbla Type

  • Methylmalonic Acidemia, Cbla Type

  • Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type

  • Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type

  • Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type

  • Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla

  • Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla

  • Methylmalonic Aciduria Type Cbla

  • MMAA

  • Methylmalonic Aciduria Type A

  • Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A

  • Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A

  • Aciduria, Methylmalonic, Cbla Type

  • Methylmalonic Aciduria Cbla Type
Organic Acidemia

  • Organic Aciduria

  • Disorder Of Organic Acid Metabolism

  • Organic Acid Metabolism Disorder

  • Organic Acidemias

  • Inherited Organic Acidemia

  • Organic Acidurias

  • Aciduria Organic
Pancytopenia
Asphyxia Neonatorum

  • Birth Asphyxia

  • Postnatal Asphyxia

  • Asphyxia - Birth

  • Asphyxia, In Liveborn Infant

  • Hypoxia Neonatorum

  • Hypoxia, In Liveborn Infant

  • Intrapartum Asphyxia

  • Neonatal Asphyxia

  • Newborn Asphyxia

  • Asphyxia In Liveborn Infant

  • Asphyxia Of Newborn Nos

  • Perinatal Asphyxia

  • Perinatal Hypoxia

  • Newborn Asphyxiation
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08220 MCEE Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19352 Mcee Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25843 Mcee Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris MCEE VGNC VGNC:43073
Rattus norvegicus MCEE RGD RGD:1309966
Mus musculus MCEE MGD MGI:1920974
Bos taurus MCEE VGNC VGNC:31300
Others MCEE NCBI