carnitine palmitoyltransferase-1A, liver isoform (CPT1A, CPT1)

Function

• inhibitors such as malonyl-CoA interact with its catalytic domain & not with an associated regulatory component

fatty acid beta-oxidation cycle

palmitoyl-CoA + L-carnitine <--> CoA + L-palmitoylcarnitine

Structure

• belongs to the carnitine/choline acetyltransferase family

Compartment

mitochondrial outer membrane

Alternative splicing

named isoforms=2

Expression

kidney & heart > liver & skeletal muscle

Pathology

• defects in CPT1A are the cause of carnitine palmitoyltransferase 1 deficiency

Laboratory

• CPT1A gene mutation

More general terms

• carnitine palmitoyltransferase 1 (CPT1)

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1374
• OMIM: https://mirror.omim.org/entry/255120
• OMIM: https://mirror.omim.org/entry/600528
• UniProt: http://www.uniprot.org/uniprot/P50416.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1374