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MCEE methylmalonyl CoA epimerase [ Homo sapiens (human) ]

Gene ID: 84693, updated on 16-Apr-2014
Official Symbol
MCEEprovided by HGNC
Official Full Name
methylmalonyl CoA epimeraseprovided by HGNC
Primary source
HGNC:16732
See related
Ensembl:ENSG00000124370; HPRD:12229; MIM:608419; Vega:OTTHUMG00000129709
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GLOD2
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]
Location :
2p13.3
Sequence :
Chromosome: 2; NC_000002.12 (71109676..71130264, complement)
See MCEE in Epigenomics, MapViewer

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor, family 7, subfamily E, member 62 pseudogene Neighboring gene N-acetylglucosamine kinase Neighboring gene M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) Neighboring gene vegetative cell wall protein gp1-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
methylmalonyl-CoA epimerase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
L-methylmalonyl-CoA metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation TAS
Traceable Author Statement
more info
 
short-chain fatty acid catabolic process TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
Preferred Names
methylmalonyl-CoA epimerase, mitochondrial
Names
methylmalonyl-CoA epimerase, mitochondrial
DL-methylmalonyl-CoA racemase
glyoxalase domain containing 2
NP_115990.3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008977.1 RefSeqGene

    Range
    5001..25589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032601.3NP_115990.3  methylmalonyl-CoA epimerase, mitochondrial precursor

    See proteins identical to NP_115990.3

    Status: REVIEWED

    Source sequence(s)
    AF364547, AI033764, BC020825, BM271757
    Consensus CDS
    CCDS1915.1
    UniProtKB/Swiss-Prot
    Q96PE7
    Related
    ENSP00000244217, OTTHUMP00000160122, ENST00000244217, OTTHUMT00000251917
    Conserved Domains (1) summary
    cd07249
    Location:48175
    Blast Score: 450
    MMCE; Methylmalonyl-CoA epimerase (MMCE)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12

    Range
    71109676..71130264, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264613.1XP_005264670.1  

    Conserved Domains (1) summary
    cd07249
    Location:48121
    Blast Score: 225
    MMCE; Methylmalonyl-CoA epimerase (MMCE)
  2. XM_006712120.1XP_006712183.1  

    Conserved Domains (1) summary
    cd07249
    Location:48130
    Blast Score: 285
    MMCE; Methylmalonyl-CoA epimerase (MMCE)

Alternate HuRef

Genomic

  1. AC_000134.1 Alternate HuRef

    Range
    71073464..71094057, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    71266126..71286714, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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