The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 2.5 µg/ml. Detects a band of approximately 34 kDa (predicted molecular weight: 34 kDa). Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
FunctionInvolved in the catabolism of branched amino acids such as leucine.
Tissue specificityFibroblasts, liver and lymphoblasts.
PathwayMetabolic intermediate metabolism; (S)-3-hydroxy-3-methylglutaryl-CoA degradation; acetoacetate from (S)-3-hydroxy-3-methylglutaryl-CoA: step 1/1.
Involvement in diseaseDefects 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.
Sequence similaritiesBelongs to the HMG-CoA lyase family.