![]() |
About Site Map Contact Us
|
|
| A service of the U.S. National Library of Medicine® | ||
Entrez Gene CPT1ACarnitine 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
On this page: Summary from Entrez GeneThe 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.
Other Aliases
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 Location11q13.1-q13.2
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.
|