2. Gene
  3. MCEE - methylmalonyl-CoA epimerase Gene

MCEE - methylmalonyl-CoA epimerase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MCE; MMCE; GLOD2

Gene ID: 84693 | Gene type: protein coding

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 Reference 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 Reference 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08220 MCEE Human Pre-designed siRNA Set A Pre-designed Sets / 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