TPP1 Chromosome 11

Tripeptidyl peptidase 1

235 variants 235 Health Risk

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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
RS1006965532	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1035033641	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1060502179	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1192702664	Health Risk	Conflicting classifications of pathogenicity	See cases, See cases
RS138448968	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Inborn genetic diseases
RS138976576	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Inborn genetic diseases
RS139059149	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, TPP1-related disorder, Inborn genetic diseases
RS140176031	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Inborn genetic diseases
RS140349036	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 2
RS140726254	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 2
RS1420315178	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS142163063	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases, Autosomal recessive spinocerebellar ataxia 7
RS145966505	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases, Autosomal recessive spinocerebellar ataxia 7
RS1471156821	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1474804613	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 2, TPP1-related disorder
RS148064565	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 2
RS149529997	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Inborn genetic diseases
RS1554901895	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1855585414	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1855595805	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS200138397	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS201034755	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Intellectual disability
RS201613668	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2
RS202025584	Health Risk	Conflicting classifications of pathogenicity	—
RS2493795992	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS369126677	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 2
RS369699167	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS370683758	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS372564255	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, TPP1-related disorder, Neuronal ceroid lipofuscinosis 2
RS373318861	Health Risk	Conflicting classifications of pathogenicity	—
RS374132017	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS375548657	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, TPP1-related disorder, Inborn genetic diseases
RS553122824	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS569432039	Health Risk	Conflicting classifications of pathogenicity	—
RS577520250	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS747594496	Health Risk	Conflicting classifications of pathogenicity	—
RS748345018	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 2
RS748686068	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2
RS750527536	Health Risk	Conflicting classifications of pathogenicity	—
RS751088292	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 2
RS751321300	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS753509905	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS755445790	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2
RS756530648	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS757548236	Health Risk	Conflicting classifications of pathogenicity	—
RS761070664	Health Risk	Conflicting classifications of pathogenicity	—
RS762785189	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS763854371	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS765380155	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS768795654	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases

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