Gene
TPP1
tripeptidyl peptidase 1
- HGNC 2073(opens in a new tab)
- Ensembl gene ENSG00000166340(opens in a new tab)
- NCBI Gene 1200(opens in a new tab)
Summary
- Cytogenetic location
- 11p15.4
- Coordinates
- Chromosome 11: 6,612,768–6,619,422 (GRCh38)
- Exons
- 13 exons across 6.7 kb
- Protein
- 563 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- LPIC, TPP-1
- Previous symbols
- CLN2, SCAR7
- MANE Select transcript
- ENST00000299427.12NM_000391.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Neuronal Ceroid Lipofuscinosis
- Autosomal recessive
A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
Broader groupings
Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)
- Autosomal Recessive Cerebellar AtaxiaAutosomal recessive
One of 57 genes linked to it
A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.
Lysosomal Storage Disease
- Lysosomal storage disease (other and unspecified types)
One of 59 genes linked to it
Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How TPP1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.5 kb of the gene's 6.7 kb; 1,692 of those bases code for the protein.
How a genome test reads TPP1
146
positions in TPP1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 6.7 kb of TPP1, introns included, not only the 3.5 kb of exons.
Traits linked to TPP1
The Human Phenotype Ontology lists these as features of the rare conditions TPP1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Degeneration of cerebellum
- Explosive speech
- Lack of coordination of movement
- Truncal titubation
- Unsteady walk
- Postural tremor
- Progressive cerebellar ataxia
Show 18 more traits
- Abnormal gait
- Babinski sign
- Clumsiness
- Difficulty articulating speech
- Impaired vibratory sensation
- Increased reflexes
- Limb ataxia
- Progressive gait ataxia
- Wide based walk
- Inability to coordinate movements when walking
- Abnormal nervous system electrophysiology
- Degeneration of cerebrum
- Delayed speech and language development
- Epilepsy
- Increased extraneuronal autofluorescent lipopigment
- Increased neuronal autofluorescent lipopigment
- Jerking
- Loss of developmental milestones
Abnormality of the eye
- Involuntary, rapid, rhythmic eye movements
- Oculomotor apraxia
- Double vision
- Horizontal nystagmus
- Saccadic smooth pursuit interruptions
- Uncoordinated eye movement
- Hypermetric saccades
- Progressive loss of vision
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TPP1 gene: tripeptidyl peptidase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/tpp1
Dante Labs. TPP1 gene: tripeptidyl peptidase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tpp1
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