No human disease has been genetically linked to variation in CPT1B. CPT1B, like CPT1A, is a carnitine palmitoyltransferase involved in transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondrial. While CPT1A is specific to the liver, CPT1B is specific to skeletal muscle. PMID: 18023382 reported homozygous Cpt1b-deficient mice that were embryonic lethal, while heterozygous mice exhibited decreased cold tolerance and fatal hypothermia after a cold-challenge test, suggesting the possibility that variation in CPT1B could be disease- causing in humans or homozygous lethal. However, no cases have been reported in the literature. No convincing evidence for a causal role for CPT1B in an inherited fatty acid metabolism disorder has been reported.
This gene-disease pair was originally evaluated by the FAO GCEP on 09/25/2018. It was reevaluated on 01/25/2021. As a result of this reevaluation, the classification did not change as no new information is contributing to the classification.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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