Gene: CPT1C

Alternate names for this Gene: CATL1|CPT1-B|CPT1P|CPTI-B|CPTIC|SPG73

Gene 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: carnitine palmitoyltransferase 1C

Type of Gene: protein-coding

rs12980063 in CPT1C gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12980063 in CPT1C gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12980063 in CPT1C gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12980063 in CPT1C gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12981033 in CPT1C gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs8105199 in CPT1C gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs786204767 in CPT1C gene and SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT PMID 25751282 2015 Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

rs8105199 in CPT1C gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs8105199 in CPT1C gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.