rs140411644

This variant is located in the CPT1C gene.

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ClinVar annotation

Likely Benign★☆☆☆
2 submitters1 publication

CPT1C-related disorder; Hereditary spastic paraplegia 73

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About CPT1C

This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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