TPP1 Chromosome 11
Tripeptidyl peptidase 1
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What This Gene Does
This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]
Associated Conditions (15)
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis
See cases
Autosomal recessive spinocerebellar ataxia 7
Inborn genetic diseases
TPP1-related disorder
Intellectual disability
Abnormality of the nervous system
Cervical cancer
Angelman syndrome
Familial cancer of breast
Malignant tumor of urinary bladder
Ovarian serous cystadenocarcinoma
Lung cancer
Juvenile neuronal ceroid lipofuscinosis
Key Variants
RS1006965532
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
Health Risk
RS1035033641
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
Health Risk
RS1060502179
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
Health Risk
RS1192702664
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS138448968
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Inborn genetic diseases
Health Risk
RS138976576
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Inborn genetic diseases
Health Risk
RS139059149
Conflicting classifications of pathogenicity
Inborn genetic diseases, TPP1-related disorder, Inborn genetic diseases
Health Risk
RS140176031
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Inborn genetic diseases
Health Risk
RS140349036
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 2
Health Risk
RS140726254
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 2
Health Risk
RS1420315178
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
Health Risk
RS142163063
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases, Autosomal recessive spinocerebellar ataxia 7
Health Risk
All Variants (235)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2493797587 | Health Risk | Likely pathogenic | — |
| RS2493798186 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS2493798476 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS2493798748 | Health Risk | Likely pathogenic | — |
| RS2493798930 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS2493798943 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS2493799334 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS2493800491 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS2493800542 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS2493800555 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS2493802055 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS2493803105 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS773546205 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2 |
| RS779615685 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS796053440 | Health Risk | Likely pathogenic | — |
| RS864309505 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS867927501 | Health Risk | Likely pathogenic | — |
| RS869025274 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS975304153 | Health Risk | Likely pathogenic | — |
| RS1057516319 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Abnormality of the nervous system, Autosomal recessive spinocerebellar ataxia 7 |
| RS1057516366 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS1064793806 | Health Risk | Pathogenic | — |
| RS112812685 | Health Risk | Pathogenic | — |
| RS1131691539 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1157546558 | Health Risk | Pathogenic | — |
| RS119455954 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis, Autosomal recessive spinocerebellar ataxia 7 |
| RS119455955 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis, Inborn genetic diseases |
| RS119455957 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2 |
| RS119455958 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 2 |
| RS1216139602 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS121908195 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 2 |
| RS121908200 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases, Neuronal ceroid lipofuscinosis |
| RS1222920812 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS1405952769 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1414255979 | Health Risk | Pathogenic | — |
| RS1422121082 | Health Risk | Pathogenic | — |
| RS1465284719 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1469902314 | Health Risk | Pathogenic | — |
| RS1554901472 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS1554901731 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS1554902020 | Health Risk | Pathogenic | — |
| RS1554902085 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2 |
| RS1564854729 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS1564855860 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1589947644 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS1855554832 | Health Risk | Pathogenic | — |
| RS1855587043 | Health Risk | Pathogenic | — |
| RS1855593862 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS1855599946 | Health Risk | Pathogenic | — |
| RS1855631590 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 7, Autosomal recessive spinocerebellar ataxia 7 |