background:
The mitochondrial oxidation of long-chain fatty acids is nitiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Function:
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. Plays an important role in triglyceride metabolism.
Subunit:
Homohexamer and homotrimer. Identified in a complex that contains at least CPT1A, ACSL1 and VDAC1. Also identified in complexes with ACSL1 and VDAC2 and VDAC3.
Subcellular Location:
Mitochondrion outer membrane; Multi-pass membrane protein.
Tissue Specificity:
Strong expression in kidney and heart, and lower in liver and skeletal muscle.
DISEASE:
Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the carnitine/choline acetyltransferase family.
Database links:
Entrez Gene: 1374 Human
Entrez Gene: 12894 Mouse
Entrez Gene: 25757 Rat
Omim: 600528 Human
SwissProt: P50416 Human
SwissProt: P97742 Mouse
SwissProt: P32198 Rat
Unigene: 503043 Human
Unigene: 18522 Mouse
Unigene: 2856 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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