CPT1A Chromosome 11
Carnitine palmitoyltransferase 1A
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What This Gene Does
The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Carnitine palmitoyltransferases
Locus Type
gene with protein product
Location
11q13.3
Ensembl
ENSG00000110090
Associated Conditions (13)
Carnitine palmitoyl transferase 1A deficiency
CPT1A-related disorder
Inborn genetic diseases
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Sarcoma
Thyroid cancer
nonmedullary
1
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
CPT1A ARCTIC VARIANT
CPT1A POLYMORPHISM
Key Variants
RS114030714
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase 1A deficiency, CPT1A-related disorder, Carnitine palmitoyl transferase 1A deficiency
Health Risk
RS1165511243
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases, Carnitine palmitoyl transferase 1A deficiency
Health Risk
RS139789100
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
Health Risk
RS141191480
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases, Carnitine palmitoyl transferase 1A deficiency
Health Risk
RS141658962
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
Health Risk
RS147389938
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases, CPT1A-related disorder
Health Risk
RS150792109
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase 1A deficiency, CPT1A-related disorder, Malignant tumor of esophagus
Health Risk
RS151271754
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase 1A deficiency, CPT1A-related disorder, Carnitine palmitoyl transferase 1A deficiency
Health Risk
RS1855050882
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
Health Risk
RS199640034
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
Health Risk
RS200893871
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases, Carnitine palmitoyl transferase 1A deficiency
Health Risk
RS201425412
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases, Carnitine palmitoyl transferase 1A deficiency
Health Risk
All Variants (175)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057516800 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1162831950 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1169875761 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1319341024 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS142954613 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1435045544 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1594334937 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1854664337 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1855113733 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1855979917 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1856354768 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1856355517 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2153994995 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2153995016 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2153995212 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2153996775 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2153999602 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2154000018 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2154000188 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2154000189 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2154000546 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2154000550 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2154001364 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495506363 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495506424 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495513020 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495513259 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495552847 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495552899 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495553163 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495560160 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495560443 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495573677 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495577924 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495578086 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495578095 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495578109 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495587613 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495587883 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495634700 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495682477 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495696275 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS28936374 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS398123654 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS577426394 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS762044597 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS765161206 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS767241290 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356774 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356778 | Health Risk | Pathogenic | Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |