1/100 - 1/500. Suggested antigen retrieval using heat mediated 10mM Citrate buffer or Tris-EDTA buffer (pH 8.0).
Strong expression in kidney and heart, and lower in liver and skeletal muscle.
Lipid metabolism; fatty acid beta-oxidation.
Involvement in disease
Defects in CPT1A are the cause of carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]; also known as CPT-I deficiency or CPT1A deficiency. CPT1AD is a rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood.
Belongs to the carnitine/choline acetyltransferase family.