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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.
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]
|601987 (http://omim.org/entry/601987)||CARNITINE PALMITOYLTRANSFERASE I, MUSCLE|
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.
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.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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.