The MCEE gene homepage

General information
Gene symbol MCEE
Gene name methylmalonyl CoA epimerase
Chromosome 2
Chromosomal band p13.3
Imprinted -
Genomic reference NG_008977.1
Transcript reference NM_032601.3
Associated with diseases WD
Citation reference(s) Pan M et al, 2011
Zhang T et al, 2010
Refseq URL Coding DNA reference sequence
Curators (0) -
Total number of public variants reported 20
Unique public DNA variants reported 17
Individuals with public variants 0
Hidden variants -
Notes 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]
Also known as: GLOD2
Date created April 21, 2013

Graphical displays and utilities
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Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.genomed.org/lovd3/genes/MCEE
HGNC 16732
Entrez Gene 84693
PubMed articles MCEE
OMIM - Gene 608419
OMIM - Diseases WD (wilson disease)
HGMD MCEE
GeneCards MCEE
GeneTests MCEE


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000080 2 methylmalonyl CoA epimerase NM_032601.3 - 20


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