{ "url": "https://dantelabs.com/pl/genes/tufm", "gene": { "slug": "tufm", "symbol": "TUFM", "name": "Tu translation elongation factor, mitochondrial", "hgnc": "HGNC:12420", "summary": null, "location": "16p11.2", "locusType": "gene with protein product", "aliases": [ "EFTu", "EF-TuMT", "EFTU" ], "previousSymbols": [], "ensemblId": "ENSG00000178952", "entrezId": 7284, "omim": [ "602389" ], "uniprot": [ "P49411" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 28842411, "end": 28846348, "strand": "-", "ensemblTranscript": "ENST00000313511.8", "refseqTranscript": "NM_003321.5", "ensemblProtein": "ENSP00000322439.3", "refseqProtein": "NP_003312.3", "exons": [ { "start": 28842411, "end": 28843148 }, { "start": 28843736, "end": 28843855 }, { "start": 28843950, "end": 28844101 }, { "start": 28844230, "end": 28844334 }, { "start": 28844419, "end": 28844551 }, { "start": 28844698, "end": 28844862 }, { "start": 28844951, "end": 28845055 }, { "start": 28845314, "end": 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"sult1a1" }, { "symbol": "NPIPB8", "ensemblId": "ENSG00000255524", "biotype": "protein_coding", "start": 28637654, "end": 28658744, "strand": "+", "slug": "npipb8" }, { "symbol": "EIF3C", "ensemblId": "ENSG00000184110", "biotype": "protein_coding", "start": 28688558, "end": 28745938, "strand": "+", "slug": "eif3c" }, { "symbol": "NPIPB9", "ensemblId": "ENSG00000196993", "biotype": "protein_coding", "start": 28751787, "end": 28772864, "strand": "+", "slug": "npipb9" }, { "symbol": "ATXN2L", "ensemblId": "ENSG00000168488", "biotype": "protein_coding", "start": 28822983, "end": 28837237, "strand": "+", "slug": "atxn2l" }, { "symbol": "SH2B1", "ensemblId": "ENSG00000178188", "biotype": "protein_coding", "start": 28846584, "end": 28875103, "strand": "+", "slug": "sh2b1" }, { "symbol": "ATP2A1", "ensemblId": "ENSG00000196296", "biotype": "protein_coding", "start": 28878383, "end": 28904511, "strand": "+", "slug": "atp2a1" }, { "symbol": "RABEP2", "ensemblId": "ENSG00000177548", "biotype": "protein_coding", "start": 28898740, "end": 28936526, "strand": "-", "slug": "rabep2" }, { "symbol": "CD19", "ensemblId": "ENSG00000177455", "biotype": "protein_coding", "start": 28931965, "end": 28939342, "strand": "+", "slug": "cd19" }, { "symbol": "NFATC2IP", "ensemblId": "ENSG00000176953", "biotype": "protein_coding", "start": 28950807, "end": 28967092, "strand": "+", "slug": "nfatc2ip" }, { "symbol": "SPNS1", "ensemblId": "ENSG00000169682", "biotype": "protein_coding", "start": 28974126, "end": 28984548, "strand": "+", "slug": "spns1" }, { "symbol": "LAT", "ensemblId": "ENSG00000213658", "biotype": "protein_coding", "start": 28984808, "end": 28990784, "strand": "+", "slug": "lat" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "Pierwotna choroba mitochondrialna", "diseases": [ { "mondoId": "MONDO:0000732", "name": "Złożony niedobór fosforylacji oksydacyjnej", "genes": 48, "inheritance": null, "description": "Schorzenia, zwykle spowodowane genami jądrowymi zaangażowanymi w produkcję białek mitochondrialnych, które obniżają jednocześnie kilka kompleksów łańcucha oddechowego i często powodują ciężką chorobę wielonarządową w dzieciństwie.", "management": "Poznanie wyniku może zakończyć poszukiwanie diagnozy i pomóc w monitorowaniu oraz opiece wspomagającej.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "hyperammonemia", "name": "High blood ammonia levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hyperammonemia" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "neonatal-hypotonia", "name": "Low muscle tone, in neonatal onset", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/neonatal-hypotonia" }, { "slug": "metabolic-acidosis", "name": "Metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/metabolic-acidosis" }, { "slug": "polymicrogyria", "name": "More grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/polymicrogyria" }, { "slug": "opisthotonus", "name": "Opisthotonus", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/opisthotonus" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-failure" } ], "related": [ { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/pl/genes/aars2" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/aifm1" }, { "slug": "atp5f1a", "symbol": "ATP5F1A", "name": "ATP synthase F1 subunit alpha", "shared": 1, "url": "https://dantelabs.com/pl/genes/atp5f1a" }, { "slug": "atp5f1d", "symbol": "ATP5F1D", "name": "ATP synthase F1 subunit delta", "shared": 1, "url": "https://dantelabs.com/pl/genes/atp5f1d" }, { "slug": "atp5f1e", "symbol": "ATP5F1E", "name": "ATP synthase F1 subunit epsilon", "shared": 1, "url": "https://dantelabs.com/pl/genes/atp5f1e" }, { "slug": "atp5po", "symbol": "ATP5PO", "name": "ATP synthase peripheral stalk subunit OSCP", "shared": 1, "url": "https://dantelabs.com/pl/genes/atp5po" }, { "slug": "c1qbp", "symbol": "C1QBP", "name": "complement C1q binding protein", "shared": 1, "url": "https://dantelabs.com/pl/genes/c1qbp" }, { "slug": "c2orf69", "symbol": "C2orf69", "name": "chromosome 2 open reading frame 69", "shared": 1, "url": "https://dantelabs.com/pl/genes/c2orf69" }, { "slug": "cars2", "symbol": "CARS2", "name": "cysteinyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/pl/genes/cars2" }, { "slug": "crls1", "symbol": "CRLS1", "name": "cardiolipin synthase 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/crls1" }, { "slug": "ears2", "symbol": "EARS2", "name": "glutamyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/pl/genes/ears2" }, { "slug": "elac2", "symbol": "ELAC2", "name": "elaC ribonuclease Z 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/elac2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }