{ "url": "https://dantelabs.com/hu/genes/tpp1", "gene": { "slug": "tpp1", "symbol": "TPP1", "name": "tripeptidyl peptidase 1", "hgnc": "HGNC:2073", "summary": null, "location": "11p15.4", "locusType": "gene with protein product", "aliases": [ "LPIC", "TPP-1" ], "previousSymbols": [ "CLN2", "SCAR7" ], "ensemblId": "ENSG00000166340", "entrezId": 1200, "omim": [ "607998" ], "uniprot": [ "O14773" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 6612768, "end": 6619422, "strand": "-", "ensemblTranscript": "ENST00000299427.12", "refseqTranscript": "NM_000391.4", "ensemblProtein": "ENSP00000299427.6", "refseqProtein": "NP_000382.3", "exons": [ { "start": 6612768, "end": 6614686 }, { "start": 6614866, "end": 6614991 }, { "start": 6615171, "end": 6615329 }, { "start": 6615442, "end": 6615562 }, { "start": 6616005, "end": 6616074 }, { "start": 6616315, "end": 6616503 }, { "start": 6616661, "end": 6616859 }, { "start": 6616975, "end": 6617153 }, { "start": 6617301, "end": 6617428 }, { "start": 6617626, "end": 6617776 }, { "start": 6618776, "end": 6618915 }, { "start": 6619196, "end": 6619267 }, { "start": 6619384, "end": 6619422 } ], "cds": { "start": 6614546, "end": 6619400 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 6634000, "end": 6640692, "strand": "-" }, "neighbourhood": { "release": "116", "start": 6116095, "end": 7116094, "genes": [ { "symbol": "OR52B2", "ensemblId": "ENSG00000255307", "biotype": "protein_coding", "start": 6169355, "end": 6170326, "strand": "-", "slug": "or52b2" }, { "symbol": "OR52W1", "ensemblId": "ENSG00000175485", "biotype": "protein_coding", "start": 6199224, "end": 6200186, "strand": "+", "slug": "or52w1" }, { "symbol": "C11orf42", "ensemblId": "ENSG00000180878", "biotype": "protein_coding", "start": 6205557, "end": 6211135, "strand": "+", "slug": "c11orf42" }, { "symbol": "FHIP1B", "ensemblId": "ENSG00000051009", "biotype": "protein_coding", "start": 6211334, "end": 6234711, "strand": "-", "slug": "fhip1b" }, { "symbol": "CNGA4", "ensemblId": "ENSG00000132259", "biotype": "protein_coding", "start": 6234765, "end": 6245922, "strand": "+", "slug": "cnga4" }, { "symbol": "CCKBR", "ensemblId": "ENSG00000110148", "biotype": "protein_coding", "start": 6259698, "end": 6272127, "strand": "+", "slug": "cckbr" }, { "symbol": "CAVIN3", "ensemblId": "ENSG00000170955", "biotype": "protein_coding", "start": 6318946, "end": 6320622, "strand": "-", "slug": "cavin3" }, { "symbol": "SMPD1", "ensemblId": "ENSG00000166311", "biotype": "protein_coding", "start": 6390381, "end": 6394998, "strand": "+", "slug": "smpd1" }, { "symbol": "APBB1", "ensemblId": "ENSG00000166313", "biotype": "protein_coding", "start": 6395111, "end": 6419515, "strand": "-", "slug": "apbb1" }, { "symbol": "HPX", "ensemblId": "ENSG00000110169", "biotype": "protein_coding", "start": 6426176, "end": 6442617, "strand": "-", "slug": "hpx" }, { "symbol": "TRIM3", "ensemblId": "ENSG00000110171", "biotype": "protein_coding", "start": 6448613, "end": 6474459, "strand": "-", "slug": "trim3" }, { "symbol": "ARFIP2", "ensemblId": "ENSG00000132254", "biotype": "protein_coding", "start": 6474683, "end": 6481479, "strand": "-", "slug": "arfip2" }, { "symbol": "TIMM10B", "ensemblId": "ENSG00000132286", "biotype": "protein_coding", "start": 6481446, "end": 6493041, "strand": "+", "slug": "timm10b" }, { "symbol": "", "ensemblId": "ENSG00000283977", "biotype": "protein_coding", "start": 6481485, "end": 6508978, "strand": "+" }, { "symbol": "RRP8", "ensemblId": "ENSG00000132275", "biotype": "protein_coding", "start": 6496506, "end": 6603638, "strand": "-", "slug": "rrp8" }, { "symbol": "DNHD1", "ensemblId": "ENSG00000179532", "biotype": "protein_coding", "start": 6497260, "end": 6593758, "strand": "+", "slug": "dnhd1" }, { "symbol": "ILK", "ensemblId": "ENSG00000166333", "biotype": "protein_coding", "start": 6603708, "end": 6610874, "strand": "+", "slug": "ilk" }, { "symbol": "TAF10", "ensemblId": "ENSG00000166337", "biotype": "protein_coding", "start": 6606294, "end": 6612539, "strand": "-", "slug": "taf10" }, { "symbol": "DCHS1", "ensemblId": "ENSG00000166341", "biotype": "protein_coding", "start": 6621330, "end": 6655834, "strand": "-", "slug": "dchs1" }, { "symbol": "MRPL17", "ensemblId": "ENSG00000158042", "biotype": "protein_coding", "start": 6680364, "end": 6683411, "strand": "-", "slug": "mrpl17" }, { "symbol": "OR2AG2", "ensemblId": "ENSG00000188124", "biotype": "protein_coding", "start": 6765626, "end": 6771976, "strand": "-", "slug": "or2ag2" }, { "symbol": "OR2AG1", "ensemblId": "ENSG00000279486", "biotype": "protein_coding", "start": 6783020, "end": 6791558, "strand": "+", "slug": "or2ag1" }, { "symbol": "OR6A2", "ensemblId": "ENSG00000184933", "biotype": "protein_coding", "start": 6791736, "end": 6799689, "strand": "-", "slug": "or6a2" }, { "symbol": "OR10A5", "ensemblId": "ENSG00000166363", "biotype": "protein_coding", "start": 6845683, "end": 6846636, "strand": "+", "slug": "or10a5" }, { "symbol": "OR10A2", "ensemblId": "ENSG00000170790", "biotype": "protein_coding", "start": 6863057, "end": 6874717, "strand": "+", "slug": "or10a2" }, { "symbol": "OR10A4", "ensemblId": "ENSG00000170782", "biotype": "protein_coding", "start": 6876625, "end": 6877619, "strand": "+", "slug": "or10a4" }, { "symbol": "OR2D2", "ensemblId": "ENSG00000166368", "biotype": "protein_coding", "start": 6891574, "end": 6892500, "strand": "-", "slug": "or2d2" }, { "symbol": "OR2D3", "ensemblId": "ENSG00000178358", "biotype": "protein_coding", "start": 6921002, "end": 6921994, "strand": "+", "slug": "or2d3" }, { "symbol": "ZNF215", "ensemblId": "ENSG00000149054", "biotype": "protein_coding", "start": 6926343, "end": 7001004, "strand": "+", "slug": "znf215" }, { "symbol": "ZNF214", "ensemblId": "ENSG00000149050", "biotype": "protein_coding", "start": 6996643, "end": 7020385, "strand": "-", "slug": "znf214" }, { "symbol": "NLRP14", "ensemblId": "ENSG00000158077", "biotype": "protein_coding", "start": 7020462, "end": 7072055, "strand": "+", "slug": "nlrp14" }, { "symbol": "RBMXL2", "ensemblId": "ENSG00000170748", "biotype": "protein_coding", "start": 7088998, "end": 7091148, "strand": "+", "slug": "rbmxl2" } ], "truncated": false }, "reports": [ { "slug": "neuronal-ceroid-lipofuscinosis", "name": "Neuronal Ceroid Lipofuscinosis", "diseases": [ { "mondoId": "MONDO:0016295", "name": "Neuronal Ceroid Lipofuscinosis", "genes": 13, "inheritance": "autosomal-recessive", "description": "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.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/neuronal-ceroid-lipofuscinosis" }, { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Autosomal Recessive Cerebellar Ataxia", "genes": 57, "inheritance": "autosomal-recessive", "description": "A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.", "management": "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.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/hu/conditions/autosomal-recessive-cerebellar-ataxias" }, { "slug": "lysosomal-storage-disease", "name": "Lysosomal Storage Disease", "diseases": [ { "mondoId": "MONDO:0002561", "name": "Lysosomal storage disease (other and unspecified types)", "genes": 59, "inheritance": null, "description": "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.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/hu/conditions/lysosomal-storage-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-nervous-system-electrophysiology", "name": "Abnormal nervous system electrophysiology", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-nervous-system-electrophysiology" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "clumsiness", "name": "Clumsiness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clumsiness" }, { "slug": "curvilinear-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material", "name": "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/curvilinear-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "diplopia", "name": "Double vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diplopia" }, { "slug": "emg-neuropathic-changes", "name": "EMG: neuropathic changes", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-neuropathic-changes" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "scanning-speech", "name": "Explosive speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scanning-speech" }, { "slug": "horizontal-nystagmus", "name": "Horizontal nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/horizontal-nystagmus" }, { "slug": "hypermetric-saccades", "name": "Hypermetric saccades", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypermetric-saccades" }, { "slug": "impaired-vibratory-sensation", "name": "Impaired vibratory sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-vibratory-sensation" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "increased-extraneuronal-autofluorescent-lipopigment", "name": "Increased extraneuronal autofluorescent lipopigment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/increased-extraneuronal-autofluorescent-lipopigment" }, { "slug": "increased-neuronal-autofluorescent-lipopigment", "name": "Increased neuronal autofluorescent lipopigment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/increased-neuronal-autofluorescent-lipopigment" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "postural-tremor", "name": "Postural tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/postural-tremor" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "progressive-gait-ataxia", "name": "Progressive gait ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-gait-ataxia" }, { "slug": "progressive-visual-loss", "name": "Progressive loss of vision", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/progressive-visual-loss" }, { "slug": "reduced-tissue-tripeptidyl-peptidase-1-activity", "name": "Reduced tissue tripeptidyl peptidase 1 activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-tissue-tripeptidyl-peptidase-1-activity" }, { "slug": "retinal-degeneration", "name": "Retina degeneration", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/retinal-degeneration" }, { "slug": "saccadic-smooth-pursuit-interruptions", "name": "Saccadic smooth pursuit interruptions", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/saccadic-smooth-pursuit-interruptions" }, { "slug": "truncal-titubation", "name": "Truncal titubation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/truncal-titubation" }, { "slug": "dysmetric-saccades", "name": "Uncoordinated eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysmetric-saccades" }, { "slug": "undetectable-electroretinogram", "name": "Undetectable electroretinogram", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/undetectable-electroretinogram" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "urinary-urgency", "name": "Urinary urgency", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urinary-urgency" }, { "slug": "broad-based-gait", "name": "Wide based walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-based-gait" } ], "related": [ { "slug": "clcn6", "symbol": "CLCN6", "name": "Cl-/H+ antiporter 6", "shared": 2, "url": "https://dantelabs.com/hu/genes/clcn6" }, { "slug": "cln3", "symbol": "CLN3", "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin", "shared": 2, "url": "https://dantelabs.com/hu/genes/cln3" }, { "slug": "cln5", "symbol": "CLN5", "name": "CLN5 lysosomal BMP synthase", "shared": 2, "url": "https://dantelabs.com/hu/genes/cln5" }, { "slug": "cln6", "symbol": "CLN6", "name": "CLN6 transmembrane ER protein", "shared": 2, "url": "https://dantelabs.com/hu/genes/cln6" }, { "slug": "cln8", "symbol": "CLN8", "name": "CLN8 transmembrane ER and ERGIC protein", "shared": 2, "url": "https://dantelabs.com/hu/genes/cln8" }, { "slug": "ctsd", "symbol": "CTSD", "name": "cathepsin D", "shared": 2, "url": "https://dantelabs.com/hu/genes/ctsd" }, { "slug": "ctsf", "symbol": "CTSF", "name": "cathepsin F", "shared": 2, "url": "https://dantelabs.com/hu/genes/ctsf" }, { "slug": "cyp27a1", "symbol": "CYP27A1", "name": "cytochrome P450 family 27 subfamily A member 1", "shared": 2, "url": "https://dantelabs.com/hu/genes/cyp27a1" }, { "slug": "dnajc5", "symbol": "DNAJC5", "name": "DnaJ heat shock protein family (Hsp40) member C5", "shared": 2, "url": "https://dantelabs.com/hu/genes/dnajc5" }, { "slug": "grn", "symbol": "GRN", "name": "granulin precursor", "shared": 2, "url": "https://dantelabs.com/hu/genes/grn" }, { "slug": "kctd7", "symbol": "KCTD7", "name": "potassium channel tetramerization domain containing 7", "shared": 2, "url": "https://dantelabs.com/hu/genes/kctd7" }, { "slug": "mfsd8", "symbol": "MFSD8", "name": "major facilitator superfamily domain containing 8", "shared": 2, "url": "https://dantelabs.com/hu/genes/mfsd8" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }