Gene Symbol | CPT1C |
Entrez Gene ID | 126129 |
Full Name | carnitine palmitoyltransferase 1C |
Synonyms | CATL1,CPT1-B,CPT1P,CPTI-B,CPTIC,SPG73 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Spastic paraplegia 73, autosomal dominant, 616282 (3) |