Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CPT1A contributors: mct - updated : 28-01-2015
HGNC name carnitine palmitoyltransferase 1A (liver)
HGNC id 2328
ASSOCIATED DISORDERS
corresponding disease(s) CPT1A
related resource MITOP database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in skeletal muscle is sufficient to enhance fatty acid oxidation and improve high-fat diet-induced insulin resistance
constitutional       gain of function
with moderate stimulation of fatty acid oxidation is sufficient to substantially reduce hepatic triglyceride levels accumulation
Susceptibility to infant death
Variant & Polymorphism other homozygozity for the c.1436C>T sequence variant, increasing infant mortality
Candidate gene
Marker
Therapy target acting directly on the degree of its malonyl-CoA sensitivity may be a relevant strategy to prevent and/or correct hepatic steatosis
SystemTypeDisorderPubmed
cardiovascularatheromacardiac
potential targets for the treatment of metabolic disorders, including diabetes and coronary heart disease
diabete  
potential targets for the treatment of metabolic disorders, including diabetes and coronary heart disease
metabolismlipid 
interventions that increase CPT1A activity could have potential benefits in the treatment of nonalcoholic fatty liver disease (NAFLD), hypertriglyceridemia
ANIMAL & CELL MODELS