CPT1C Chromosome 19
Carnitine palmitoyltransferase 1C
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What This Gene Does
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]
Gene Info
Gene Group
Carnitine palmitoyltransferases
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000169169
Associated Conditions (2)
Hereditary spastic paraplegia 73
CPT1C-related disorder
Key Variants
RS1019515406
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
Health Risk
RS138872867
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
Health Risk
RS140099471
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
Health Risk
RS141139944
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
Health Risk
RS141453772
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
Health Risk
RS143091111
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
Health Risk
RS200190780
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 73, CPT1C-related disorder, Hereditary spastic paraplegia 73
Health Risk
RS753309074
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
Health Risk
RS759904221
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
Health Risk
RS762616491
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
Health Risk
RS1186386364
Likely pathogenic
Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
Health Risk
RS1486248764
Likely pathogenic
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1019515406 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS138872867 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS140099471 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS141139944 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS141453772 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS143091111 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS200190780 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 73, CPT1C-related disorder, Hereditary spastic paraplegia 73 |
| RS753309074 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS759904221 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS762616491 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS1186386364 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS1486248764 | Health Risk | Likely pathogenic | — |
| RS2514147270 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS566644989 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS751933977 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS1447368316 | Health Risk | Pathogenic | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS1568547326 | Health Risk | Pathogenic | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS2514088767 | Health Risk | Pathogenic | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS748659009 | Health Risk | Pathogenic | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS767517922 | Health Risk | Pathogenic | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS780195851 | Health Risk | Pathogenic | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |
| RS786204767 | Health Risk | Pathogenic | Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73 |