- 3-hydroxy-3-methylglutaryl-CoA lyase
Name = 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
HGNCid = 5005
Symbol = HMGCL
EntrezGene = 3155
OMIM = 246450
RefSeq = NM_000191
UniProt = P35914
ECnumber = 126.96.36.199
Chromosome = 1
Arm = p
Band = 36.1
LocusSupplementaryData = -p35 3-hydroxy-3-methylglutaryl-CoA lyase (or
HMG-CoAlyase) plays an essential role in breaking down dietary proteins and fats for energy.
Specifically, the enzyme is responsible for processing the
amino acid leucine.
Mutations in the "HMGCL" genecause 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
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