MCEE
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MCEE (HGNC:16732) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
methylmalonyl-CoA epimerase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
GLOD2, MCE, MMCE
%HI
63.92(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.41(Read more about gnomAD pLI score)
LOEUF
0.87(Read more about gnomAD LOEUF score)
Cytoband
2p13.3
Genomic Coordinates
GRCh37/hg19: chr2:71336817-71357359 NCBI Ensembl UCSC
GRCh38/hg38: chr2:71109687-71130229 NCBI Ensembl UCSC
MANE Select Transcript
NM_032601.4 ENST00000244217.6 (Read more about MANE Select)
Function
Methylmalonyl-CoA epimerase involved in propionyl-CoA metabolism. {ECO:0000269|PubMed:11481338}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-37219
ClinGen Curation ID:
CCID:007443
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/25/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Monarch
HI Evidence Comments:
Variants in MCEE have been reported in association with Methylmalonyl-CoA epimerase deficiency, an autosomal recessive condition.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)