3 hydroxy 3 methylglutaryl CoA lyase; 3 hydroxy 3 methylglutaryl Coenzyme A lyase; 3 hydroxymethyl 3 methylglutaryl Coenzyme A lyase (hydroxymethylglutaricaciduria); 3 hydroxymethyl 3 methylglutaryl Coenzyme A lyase; 3-hydroxy-3-methylglutarate-CoA lyase; HL; HMG CoA lyase; HMG CoA Lyase Deficiency; HMG-CoA lyase; HMGCL; HMGCL_HUMAN; Hydroxymethylglutaricaciduria; Hydroxymethylglutaryl CoA lyase; Hydroxymethylglutaryl CoA lyase mitochondrial; Hydroxymethylglutaryl-CoA lyase; mitochondrial; MS725; OTTHUMP00000044830.
研究领域
肿瘤 细胞生物 免疫学 信号转导 脂蛋白 线粒体
抗体来源
Rabbit
克隆类型
Polyclonal
交叉反应
Mouse, (predicted: Human, Rat, Chicken, Dog, Horse, Rabbit, )
产品应用
WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 (石蜡切片需做抗原修复) not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
分 子 量
32kDa
细胞定位
细胞浆 线粒体
性 状
Liquid
浓 度
1mg/ml
免 疫 原
KLH conjugated synthetic peptide derived from human HMGCL:41-140/325
亚 型
IgG
纯化方法
affinity purified by Protein A
储 存 液
0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
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.
Function: Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism.
Subunit: Homodimer; disulfide-linked. Can also form homotetramers.
Subcellular Location: Mitochondrion matrix.
Tissue Specificity: Fibroblasts, liver and lymphoblasts.
DISEASE: Defects in HMGCL are the cause of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]; also known as hydroxymethylglutaricaciduria or HL deficiency. An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases.