PPT1 Chromosome 1
Palmitoyl-protein thioesterase 1
Upload your DNA to see your personal genotypes for variants in PPT1.
What This Gene Does
The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Depalmitoylases
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000131238
Associated Conditions (16)
Neuronal ceroid lipofuscinosis 1
Inborn genetic diseases
PPT1-related disorder
Intellectual disability
Neuronal ceroid lipofuscinosis
Familial cancer of breast
Thyroid cancer
nonmedullary
1
Abnormality of the nervous system
Retinitis pigmentosa
Neuronal Ceroid-Lipofuscinosis
Recessive
See cases
Spastic ataxia
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Key Variants
RS1057515448
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
Health Risk
RS1057515556
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
Health Risk
RS112553480
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 1, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 1
Health Risk
RS113082671
Conflicting classifications of pathogenicity
PPT1-related disorder, Neuronal ceroid lipofuscinosis 1, PPT1-related disorder
Health Risk
RS142894102
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 1, Intellectual disability, Inborn genetic diseases
Health Risk
RS146902902
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 1, Intellectual disability, Inborn genetic diseases
Health Risk
RS150454815
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
Health Risk
RS1648657739
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
Health Risk
RS1648754113
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
Health Risk
RS200777536
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 1, Familial cancer of breast, Neuronal ceroid lipofuscinosis 1
Health Risk
RS2124487866
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
Health Risk
RS368715899
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
Health Risk
All Variants (167)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137852698 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS137852699 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Inborn genetic diseases, Neuronal ceroid lipofuscinosis |
| RS137852701 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS137852702 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1477443863 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1553166337 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1553166499 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1553167415 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1553167474 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1570470281 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1648659458 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1649593824 | Health Risk | Pathogenic | — |
| RS1649597261 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1649901192 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2124470378 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2124472229 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2124472385 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2124474476 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2124487750 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2124487925 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2124494531 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2523620826 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2523631229 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2523642334 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2523675546 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2523675796 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2523683923 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2523687822 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2523687837 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2523687999 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2523709256 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2523709453 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS2523709882 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS386833628 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS386833630 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS386833633 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS386833634 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 1 |
| RS386833635 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS386833642 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS386833649 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS386833650 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS386833655 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Inborn genetic diseases, Neuronal ceroid lipofuscinosis |
| RS386833668 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS746043871 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS776995551 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS796052923 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS796052927 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS878853325 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1302326945 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS137852697 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |