CPT2 Chromosome 1
Carnitine palmitoyltransferase 2
Upload your DNA to see your personal genotypes for variants in CPT2.
What This Gene Does
The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Carnitine palmitoyltransferases
Locus Type
gene with protein product
Location
1p32.3
Ensembl
ENSG00000157184
Associated Conditions (33)
Carnitine palmitoyl transferase II deficiency
severe infantile form
myopathic form
neonatal form
Encephalopathy
acute
infection-induced
susceptibility to
4
Carnitine palmitoyltransferase II deficiency
Inborn genetic diseases
CPT2-related disorder
Uterine corpus endometrial carcinoma
7 conditions
Acute rhabdomyolysis
Autosomal recessive CPT2-related disorders
Rhabdomyolysis
Abnormality of the musculature
Ovarian serous cystadenocarcinoma
Thymoma
+13 more conditions
Key Variants
RS1009503062
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase II deficiency, severe infantile form, myopathic form
Health Risk
RS112914907
Conflicting classifications of pathogenicity
Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form
Health Risk
RS1212235186
Conflicting classifications of pathogenicity
Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form
Health Risk
RS138125299
Conflicting classifications of pathogenicity
Carnitine palmitoyltransferase II deficiency, Inborn genetic diseases, Carnitine palmitoyltransferase II deficiency
Health Risk
RS138575554
Conflicting classifications of pathogenicity
Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
Health Risk
RS138855128
Conflicting classifications of pathogenicity
Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form
Health Risk
RS1397098803
Conflicting classifications of pathogenicity
Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form
Health Risk
RS140771069
Conflicting classifications of pathogenicity
Carnitine palmitoyltransferase II deficiency, CPT2-related disorder, Carnitine palmitoyl transferase II deficiency
Health Risk
RS141505320
Conflicting classifications of pathogenicity
Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency
Health Risk
RS141553491
Conflicting classifications of pathogenicity
Carnitine palmitoyltransferase II deficiency, Inborn genetic diseases, Carnitine palmitoyltransferase II deficiency
Health Risk
RS142600166
Conflicting classifications of pathogenicity
Carnitine palmitoyltransferase II deficiency, Inborn genetic diseases, Carnitine palmitoyltransferase II deficiency
Health Risk
RS142790440
Conflicting classifications of pathogenicity
Carnitine palmitoyltransferase II deficiency, CPT2-related disorder, Uterine corpus endometrial carcinoma
Health Risk
All Variants (249)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057517493 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, myopathic form |
| RS1057517515 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, myopathic form, severe infantile form |
| RS1057517525 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, myopathic form, severe infantile form |
| RS1057517729 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS1131691330 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS1187631754 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS121918528 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS1238901632 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute |
| RS1374482155 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS1416248797 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, neonatal form |
| RS1446745791 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS1553169629 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS1553169813 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS1553169973 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS1553170029 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS1572385947 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, neonatal form |
| RS1645411052 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, neonatal form |
| RS1645420669 | Health Risk | Pathogenic/Likely pathogenic | Encephalopathy, acute, infection-induced |
| RS1645445189 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS201065226 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, myopathic form, severe infantile form |
| RS2100261957 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, CPT2-related disorder, Carnitine palmitoyltransferase II deficiency |
| RS2525558154 | Health Risk | Pathogenic/Likely pathogenic | Encephalopathy, acute, infection-induced |
| RS2525570159 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute |
| RS2525588822 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute |
| RS28936673 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS28936674 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS368311455 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS370157946 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute |
| RS515726177 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS539239516 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute |
| RS74315294 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, myopathic form, neonatal form |
| RS74315295 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, myopathic form, severe infantile form |
| RS74315296 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency |
| RS74315298 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency |
| RS749895856 | Health Risk | Pathogenic/Likely pathogenic | 7 conditions, Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency |
| RS751253358 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute |
| RS751557097 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute |
| RS752373512 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency |
| RS752468216 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS754363068 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, myopathic form, severe infantile form |
| RS754386565 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, neonatal form, myopathic form |
| RS755395180 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS756931329 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS760255368 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute |
| RS762366252 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS766004699 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute |
| RS778895906 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute |
| RS786204647 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency |
| RS908749525 | Health Risk | Pathogenic/Likely pathogenic | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form |