{ "url": "https://dantelabs.com/et/genes/gtpbp3", "gene": { "slug": "gtpbp3", "symbol": "GTPBP3", "name": "GTP binding protein 3, mitochondrial", "hgnc": "HGNC:14880", "summary": null, "location": "19p13.11", "locusType": "gene with protein product", "aliases": [ "MSS1", "THDF1", "GTPBG3", "MTGP1", "FLJ14700" ], "previousSymbols": [], "ensemblId": "ENSG00000130299", "entrezId": 84705, "omim": [ "608536" ], "uniprot": [ "Q969Y2" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 17337553, "end": 17342731, "strand": "+", "ensemblTranscript": "ENST00000324894.13", "refseqTranscript": "NM_032620.4", "ensemblProtein": "ENSP00000313818.7", "refseqProtein": "NP_116009.2", "exons": [ { "start": 17337553, "end": 17337664 }, { "start": 17338008, "end": 17338255 }, { "start": 17338365, "end": 17338451 }, { "start": 17338539, "end": 17338741 }, { "start": 17338954, "end": 17339026 }, { "start": 17339123, "end": 17339266 }, { "start": 17339434, "end": 17339599 }, { "start": 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"ensemblId": "ENSG00000269307", "biotype": "protein_coding", "start": 17267418, "end": 17282966, "strand": "+" }, { "symbol": "ANKLE1", "ensemblId": "ENSG00000160117", "biotype": "protein_coding", "start": 17281645, "end": 17287649, "strand": "+", "slug": "ankle1" }, { "symbol": "ABHD8", "ensemblId": "ENSG00000127220", "biotype": "protein_coding", "start": 17292131, "end": 17310236, "strand": "-", "slug": "abhd8" }, { "symbol": "MRPL34", "ensemblId": "ENSG00000130312", "biotype": "protein_coding", "start": 17292543, "end": 17306847, "strand": "+", "slug": "mrpl34" }, { "symbol": "DDA1", "ensemblId": "ENSG00000130311", "biotype": "protein_coding", "start": 17309518, "end": 17323315, "strand": "+", "slug": "dda1" }, { "symbol": "ANO8", "ensemblId": "ENSG00000074855", "biotype": "protein_coding", "start": 17323223, "end": 17334864, "strand": "-", "slug": "ano8" }, { "symbol": "PLVAP", "ensemblId": "ENSG00000130300", "biotype": "protein_coding", "start": 17351450, "end": 17377356, "strand": "-", "slug": "plvap" }, { "symbol": "CCDC194", "ensemblId": "ENSG00000269720", "biotype": "protein_coding", "start": 17387196, "end": 17394201, "strand": "-", "slug": "ccdc194" }, { "symbol": "BST2", "ensemblId": "ENSG00000130303", "biotype": "protein_coding", "start": 17402933, "end": 17407393, "strand": "-", "slug": "bst2" }, { "symbol": "MVB12A", "ensemblId": "ENSG00000141971", "biotype": "protein_coding", "start": 17405722, "end": 17436364, "strand": "+", "slug": "mvb12a" }, { "symbol": "TMEM221", "ensemblId": "ENSG00000188051", "biotype": "protein_coding", "start": 17435509, "end": 17448679, "strand": "-", "slug": "tmem221" }, { "symbol": "", "ensemblId": "ENSG00000269035", "biotype": "protein_coding", "start": 17436611, "end": 17460804, "strand": "-" }, { "symbol": "NXNL1", "ensemblId": "ENSG00000171773", "biotype": "protein_coding", "start": 17455425, "end": 17460926, "strand": "-", "slug": "nxnl1" }, { "symbol": "SLC27A1", "ensemblId": "ENSG00000130304", "biotype": "protein_coding", "start": 17467666, "end": 17506190, "strand": "+", "slug": "slc27a1" }, { "symbol": "PGLS", "ensemblId": "ENSG00000130313", "biotype": "protein_coding", "start": 17511607, "end": 17521288, "strand": "+", "slug": "pgls" }, { "symbol": "NIBAN3", "ensemblId": "ENSG00000167483", "biotype": "protein_coding", "start": 17523301, "end": 17553839, "strand": "+", "slug": "niban3" }, { "symbol": "COLGALT1", "ensemblId": "ENSG00000130309", "biotype": "protein_coding", "start": 17555590, "end": 17583162, "strand": "+", "slug": "colgalt1" }, { "symbol": "UNC13A", "ensemblId": "ENSG00000130477", "biotype": "protein_coding", "start": 17601327, "end": 17688382, "strand": "-", "slug": "unc13a" }, { "symbol": "MAP1S", "ensemblId": "ENSG00000130479", "biotype": "protein_coding", "start": 17719242, "end": 17734515, "strand": "+", "slug": "map1s" }, { "symbol": "FCHO1", "ensemblId": "ENSG00000130475", "biotype": "protein_coding", "start": 17747701, "end": 17788572, "strand": "+", "slug": "fcho1" }, { "symbol": "B3GNT3", "ensemblId": "ENSG00000179913", "biotype": "protein_coding", "start": 17794697, "end": 17814175, "strand": "+", "slug": "b3gnt3" }, { "symbol": "INSL3", "ensemblId": "ENSG00000248099", "biotype": "protein_coding", "start": 17816512, "end": 17821574, "strand": "-", "slug": "insl3" }, { "symbol": "JAK3", "ensemblId": "ENSG00000105639", "biotype": "protein_coding", "start": 17824780, "end": 17848071, "strand": "-", "slug": "jak3" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "Primaarne mitokondriaalne haigus", "diseases": [ { "mondoId": "MONDO:0000732", "name": "Kombineeritud oksüdatiivse fosforüülimise puudulikkus", "genes": 48, "inheritance": null, "description": "Haigused, mida tavaliselt põhjustavad mitokondriaalse valgu tootmisega seotud tuumageenid. Need vähendavad korraga mitmete hingamisahela komplekside aktiivsust ning põhjustavad sageli raskeid mitmesüsteemseid haigusi lapseeas.", "management": "Teadmine võib lõpetada diagnoosiotsingu ning suunata jälgimist ja toetavat ravi.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/et/conditions/primary-mitochondrial-disease" }, { "slug": "leigh-syndrome", "name": "Leigh'i sündroom", "diseases": [ { "mondoId": "MONDO:0009723", "name": "Leigh'i sündroom", "genes": 69, "inheritance": null, "description": "Progresseeruv neuroloogiline haigus, mida iseloomustavad spetsiifilised neuropatoloogilised tunnused, mis seovad ajutüve ja basaalganglionide kahjustused.", "management": null, "evidence": { "gencc": [], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/et/conditions/leigh-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-basal-ganglia-mri-signal-intensity", "name": "Abnormal basal ganglia MRI signal intensity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-basal-ganglia-mri-signal-intensity" }, { "slug": "abnormal-brainstem-mri-signal-intensity", "name": "Abnormal brainstem MRI signal intensity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-brainstem-mri-signal-intensity" }, { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "abnormal-thalamic-mri-signal-intensity", "name": "Abnormal thalamic MRI signal intensity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-thalamic-mri-signal-intensity" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "cyanosis", "name": "Blue discoloration of the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cyanosis" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "cytochrome-c-oxidase-negative-muscle-fibers", "name": "Cytochrome C oxidase-negative muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cytochrome-c-oxidase-negative-muscle-fibers" }, { "slug": "decreased-activity-of-mitochondrial-complex-i", "name": "Decreased activity of mitochondrial complex I", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i" }, { "slug": "decreased-activity-of-mitochondrial-complex-iv", "name": "Decreased activity of mitochondrial complex IV", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv" }, { "slug": "floppy-infant", "name": "Decreased muscle tone in infant", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/floppy-infant" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "left-ventricular-hypertrophy", "name": "Left ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "stridor", "name": "Noisy breathing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stridor" }, { "slug": "paroxysmal-dyspnea", "name": "Paroxysmal dyspnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/paroxysmal-dyspnea" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "right-ventricular-hypertrophy", "name": "Right ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/right-ventricular-hypertrophy" }, { "slug": "severely-reduced-left-ventricular-ejection-fraction", "name": "Severely reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/severely-reduced-left-ventricular-ejection-fraction" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "easy-fatigability", "name": "Tired easily", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/easy-fatigability" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "wolff-parkinson-white-syndrome", "name": "Wolff-Parkinson-White syndrome", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wolff-parkinson-white-syndrome" } ], "related": [ { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 2, "url": "https://dantelabs.com/et/genes/aifm1" }, { "slug": "ears2", "symbol": "EARS2", "name": "glutamyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/et/genes/ears2" }, { "slug": "fars2", "symbol": "FARS2", "name": "phenylalanyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/et/genes/fars2" }, { "slug": "gfm1", "symbol": "GFM1", "name": "G elongation factor mitochondrial 1", "shared": 2, "url": "https://dantelabs.com/et/genes/gfm1" }, { "slug": "gfm2", "symbol": "GFM2", "name": "GTP dependent ribosome recycling factor mitochondrial 2", "shared": 2, "url": "https://dantelabs.com/et/genes/gfm2" }, { "slug": "mrps34", "symbol": "MRPS34", "name": "mitochondrial ribosomal protein S34", "shared": 2, "url": "https://dantelabs.com/et/genes/mrps34" }, { "slug": "mtfmt", "symbol": "MTFMT", "name": "mitochondrial methionyl-tRNA formyltransferase", "shared": 2, "url": "https://dantelabs.com/et/genes/mtfmt" }, { "slug": "mtrfr", "symbol": "MTRFR", "name": "mitochondrial translation release factor in rescue", "shared": 2, "url": "https://dantelabs.com/et/genes/mtrfr" }, { "slug": "pnpt1", "symbol": "PNPT1", "name": "polyribonucleotide nucleotidyltransferase 1", "shared": 2, "url": "https://dantelabs.com/et/genes/pnpt1" }, { "slug": "tsfm", "symbol": "TSFM", "name": "Ts translation elongation factor, mitochondrial", "shared": 2, "url": "https://dantelabs.com/et/genes/tsfm" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/et/genes/aars2" }, { "slug": "atp5f1a", "symbol": "ATP5F1A", "name": "ATP synthase F1 subunit alpha", "shared": 1, "url": "https://dantelabs.com/et/genes/atp5f1a" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }