Entrez Gene CPT2

The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders.

Most genes contain the information needed to make functional molecules called proteins. A few genes produce other molecules that help the cell assemble proteins. A molecule produced using a gene's information is called a gene product. Frequently, genetic researchers will identify a gene product first and later identify the gene used to make the product. Due to the close relationship between gene products and genes, the gene product name is frequently used as a synonym of the gene name.

Other Symbols

Other Aliases

Entrez Gene lists the observable physical or biochemical characteristics (phenotype) that result from expressing the CPT2 gene. Most phenotypes listed in Entrez Gene are the result of expressing undesirable gene mutations. Entrez Gene matches each phenotype with an entry in the Online Mendelian Inheritance in Man (OMIM), a catalog that provides information on the relationship between a phenotype and a gene. OMIM is a tool for genetic researchers, and the reading level may be challenging for those without a genetics or medical background.

• CPT deficiency, hepatic, type II
• CPT II deficiency, lethal neonatal
• Myopathy due to CPT II deficiency

Click here to view the CPT2 GeneRIFs.

Entrez Gene matches the CPT2 gene with an OMIM record. Sometimes OMIM combines discussion of a gene with its best-known or first-discovered phenotype into a single record. Other times, OMIM has separate records for a gene and its phenotypes. The link to OMIM for a gene may or may not be the same as one of the phenotype links in the Related Conditions list. The reading level of the OMIM material can be challenging.

• OMIM Entry: 600650