3-hydroxy-3-methylglutaryl-CoA lyase
- 3-hydroxy-3-methylglutaryl-CoA lyase
protein
Name = 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
caption =
width =
HGNCid = 5005
Symbol = HMGCL
AltSymbols =
EntrezGene = 3155
OMIM = 246450
RefSeq = NM_000191
UniProt = P35914
PDB =
ECnumber = 4.1.3.4
Chromosome = 1
Arm = p
Band = 36.1
LocusSupplementaryData = -p35 3-hydroxy-3-methylglutaryl-CoA lyase (or HMG-CoA lyase) plays an essential role in breaking down dietary proteins and fats for energy.
Specifically, the enzyme is responsible for processing the amino acid leucine.
Pathology
Mutations in the "HMGCL" gene cause 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
External links
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Look at other dictionaries:
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