MCEE
entrez
84693
canonical
uniprot
Q96PE7
canonical
ensembl
ENSG00000124370
resolver
ensp
ENSP00000244217
resolver
ensp
ENSP00000716595
resolver
enst
ENST00000244217
resolver
genesymbol
MCEE
resolver
hgnc
HGNC:16732
resolver
uniprot
Q53TP1
resolver
uniprot
Q8WW63
resolver
uniprot_entry
MCEE_HUMAN
resolver
uniprot_sec
Q53TP1
resolver
uniprot_sec
Q8WW63
resolver
amino_acid_sequence
MARVLKAAAANAVGLFSRLQAPIPTVRASSTSQPLDQVTGSVWNLGRLNHVAIAVPDLEKAAAFYKNILGAQVSEAVPLPEHGVSVVFVNLGNTKMELLHPLGRDSPIAGFLQKNKAGGMHHICIEVDNINAAVMDLKKKKIRSLSEEVKIGAHGKPVIFLHPKDCGGVLVELEQA
uniprot
proteins
disease_involvement
DISEASE: Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:251120]: Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. {ECO:0000269|PubMed:16752391}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.1.99.1
uniprot
proteins
function
FUNCTION: Methylmalonyl-CoA epimerase involved in propionyl-CoA metabolism. {ECO:0000269|PubMed:11481338}.
uniprot
proteins
mass_dalton
18749
uniprot
proteins
protein_family
Methylmalonyl-CoA epimerase family
uniprot
proteins
pubmed
11481338
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16752391
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
176
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
uniprot
proteins