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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.
Pathology
Mutations in the HMGCL gene cause 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
External links
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