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Entrez Gene CPT1A

Carnitine palmitoyltransferase 1A (liver)

Most of the information on this page was automatically retrieved from Entrez Gene, a resource used by genetic researchers. Genetics Home Reference displays a partial listing of the Entrez Gene record with some explanatory text.
Click here to view the entire record for CPT1A on Entrez GeneThis link leads to a site outside Genetics Home Reference..

Summary from Entrez Gene

The mitochondrial oxidation of long-chain fatty acids is initiated 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.

Synonyms

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

During the time needed to identify and understand a gene, researchers may use many systems for classifying and naming the gene. The HUGO Gene Nomenclature Committee (HGNC) is the recognized authority in the United States and Europe for designating official gene names and symbols. Symbols from other naming systems can be used as synonyms.
  • CPT1
  • CPT1-L
  • L-CPT1

Other Aliases

  • carnitine palmitoyltransferase 1A
  • carnitine palmitoyltransferase I, liver

Phenotypes

Entrez Gene lists the observable physical or biochemical characteristics (phenotype) that result from expressing the CPT1A 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.

Gene Location

GeneRIF: Gene References Into Function

Entrez Gene GeneRIFs are recent publications from the PubMed® catalog that contain relevant information about CPT1A.
Click here to view the CPT1A GeneRIFs.

Online Mendelian Inheritance in Man (OMIM) Gene Records

Entrez Gene matches the CPT1A 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.
 
Published: May 9, 2008