3-hydroxy-3-methylglutaryl-CoA lyase
From Wikipedia, the free encyclopedia
3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
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Identifiers | |
Symbol | HMGCL |
Entrez | 3155 |
HUGO | 5005 |
OMIM | 246450 |
RefSeq | NM_000191 |
UniProt | P35914 |
Other data | |
EC number | 4.1.3.4 |
Locus | Chr. 1 p36.1-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.
[edit] Pathology
Mutations in the HMGCL gene cause 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
[edit] External links
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