Mitochondrial Carnitine/Acylcarnitine Carrier (SLC25A20) ELISA Kit for Human

This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]

SLC25A20: Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Defects in SLC25A20 are the cause of carnitine- acylcarnitine translocase deficiency (CACT deficiency). It is an autosomal recessive deficiency in mitochondrial oxidation of fatty acids. It is usually lethal within a few hours or days after birth. Symptoms characterizing its normally severe clinical phenotype include fatty hepatomegaly with abnormal liver function, cardiomyopathy, muscle weakness and episodes of life-threatening coma, which eventually lead to death. Belongs to the mitochondrial carrier family.

Protein type: Transporter, SLC family; Membrane protein, multi-pass; Transporter; Mitochondrial; Membrane protein, integral

Chromosomal Location of Human Ortholog: 3p21.31

Cellular Component: cytoplasm; integral to membrane; mitochondrial inner membrane; mitochondrion

Molecular Function: structural constituent of ribosome

Biological Process: carnitine shuttle; cellular lipid metabolic process; translation

Disease: Carnitine-acylcarnitine Translocase Deficiency