靶标：
HMGCL
产品别名：
HL； HMGCL； 3-hydroxy-3-methylglutaryl-CoA lyase； 3-hydroxy-3-methylglutaryl-CoA lyase； hydroxymethylglutaryl-CoA lyase, mitochondrial； 3-hydroxy-3-methylglutarate-CoA lyase； 3-hydroxymethyl-3-methylglutaryl-CoA lyase； 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase； HMG-CoA lyase； hydroxymethylglutaricaciduria； mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase； 3-羟甲基-3-甲基戊二酰辅酶A裂合酶(HMGCL)； 三羟基三甲基辅酶A裂解酶；
背景信息：
The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
