MCEE (methylmalonyl-CoA epimerase)

2014-11-01  

Identity

HGNC
MCEE
LOCATION
2p13.3
LOCUSID
84693
ALIAS
GLOD2,MCE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84693
MIM: 608419
HGNC: 16732
Ensembl: ENSG00000124370

Variants:

dbSNP: 84693
ClinVar: 84693
TCGA: ENSG00000124370
COSMIC: MCEE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124370ENST00000244217Q96PE7
ENSG00000124370ENST00000413592H7BZS7
ENSG00000124370ENST00000486135F5GZ54
ENSG00000124370ENST00000494660F5GZ54

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Glyoxylate and dicarboxylate metabolismKEGGko00630
Propanoate metabolismKEGGko00640
Valine, leucine and isoleucine degradationKEGGhsa00280
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
Propanoate metabolismKEGGhsa00640
Metabolic pathwaysKEGGhsa01100
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoAKEGGhsa_M00741
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoAKEGGM00741
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Mitochondrial Fatty Acid Beta-OxidationREACTOMER-HSA-77289
Propionyl-CoA catabolismREACTOMER-HSA-71032

References

Pubmed IDYearTitleCitations
306824982019Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.9
306824982019Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.9
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
178239722007Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).12
178239722007Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).12

Citation

Dessen P

MCEE (methylmalonyl-CoA epimerase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68842/js/lib/favicon/img/logo-atlas-4.svg