基因名：
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：
Hydroxymethylglutaryl-CoA lyase (HMGCL) is found in fibroblasts, liver and lymphoblasts. It has a role in ketogenesis and leucine catabolism. Defects in HMGCL are the cause of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (hydroxymethylglutaricaciduria), an autosomal recessive disease which can lead to hypoglycemia and coma.
