CPT1A

CPT1A (Carnitine Palmitoyltransferase 1A) is a Protein Coding gene. Diseases associated with CPT1A include Carnitine Palmitoyltransferase I Deficiency and Carnitine Palmitoyltransferase Ii Deficiency, Infantile. Among its related pathways are Circadian rythm related genes and Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and carnitine O-palmitoyltransferase activity. An important paralog of this gene is CPT1B.

Carnitine Palmitoyltransferase 1A

Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion (PubMed:9691089, PubMed:11350182, PubMed:14517221).

Plays an important role in hepatic triglyceride metabolism (By similarity).

Carnitine metabolic process Source: UniProtKB
Carnitine shuttle Source: Reactome
Cellular response to fatty acid Source: Ensembl
Eating behavior Source: Ensembl
Epithelial cell differentiation Source: UniProtKB
Fatty acid beta-oxidation Source: ProtInc
Fatty acid metabolic process Source: GO_Central
Glucose metabolic process Source: Ensembl
Liver regeneration Source: Ensembl
Long-chain fatty acid metabolic process Source: UniProtKB
Positive regulation of fatty acid beta-oxidation Source: Ensembl
Regulation of insulin secretion Source: Ensembl
Regulation of lipid storage Source: Ensembl
Response to alkaloid Source: Ensembl
Response to antibiotic Source: Ensembl
Response to drug Source: Ensembl
Response to ethanol Source: Ensembl
Response to nutrient levels Source: Ensembl
Response to organic cyclic compound Source: Ensembl
Response to tetrachloromethane Source: Ensembl
Triglyceride metabolic process Source: Ensembl

Mitochondrion outer membrane

Carnitine palmitoyltransferase 1A deficiency (CPT1AD):
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.

Cytoplasmic: 2-47
Helical: 48-73
Mitochondrial intermembrane: 74-102
Helical: 103-122
Cytoplasmic: 123-773