MCEE - methylmalonyl-CoA epimerase Gene

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

MCEE Protein Structure

Glyoxalase_4

0
100
176 a.a.

Protein Preferred Names

Protein Names

methylmalonyl-CoA epimerase, mitochondrial

DL-methylmalonyl-CoA racemase

Recombinant MCEE Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70895	MCEE Protein, Human (HEK293, His)	Q96PE7 (Q37-A176)	≥95%

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08220	MCEE Human Pre-designed siRNA Set A		/	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