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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

CPT1B

The information on this page was automatically extracted from online scientific databases.

What is the official name of the CPT1B gene?

The official name of this gene is “carnitine palmitoyltransferase 1B (muscle).”

CPT1B is the gene's official symbol. The CPT1B gene is also known by other names, listed below.

What is the normal function of the CPT1B gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1375):

The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]

How are changes in the CPT1B gene related to health conditions?

Genetics Home Reference provides information about narcolepsy, which is associated with changes in the CPT1B gene.
NCBI Gene cites these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic

Where is the CPT1B gene located?

Cytogenetic Location: 22q13.33

Molecular Location on chromosome 22: base pairs 50,568,860 to 50,578,666

The CPT1B gene is located on the long (q) arm of chromosome 22 at position 13.33.

The CPT1B gene is located on the long (q) arm of chromosome 22 at position 13.33.

More precisely, the CPT1B gene is located from base pair 50,568,860 to base pair 50,578,666 on chromosome 22.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about CPT1B?

You and your healthcare professional may find the following resources about CPT1B helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CPT1B gene or gene products?

  • CPT1M
  • CPT1-M
  • CPTI
  • CPTI-M
  • MCCPT1
  • MCPT1
  • M-CPT1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CPT1B?

carnitine ; cytoplasm ; enzyme ; expressed ; gene ; isoforms ; locus ; mitochondria ; oxidation ; protein ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: September 29, 2014