{ "url": "https://dantelabs.com/lt/genes/uqcrq", "gene": { "slug": "uqcrq", "symbol": "UQCRQ", "name": "ubiquinol-cytochrome c reductase complex III subunit VII", "hgnc": "HGNC:29594", "summary": null, "location": "5q31.1", "locusType": "gene with protein product", "aliases": [ "QP-C", "QCR8", "UQCR7" ], "previousSymbols": [], "ensemblId": "ENSG00000164405", "entrezId": 27089, "omim": [ "612080" ], "uniprot": [ "O14949" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "5", "start": 132866642, "end": 132868847, "strand": "+", "ensemblTranscript": "ENST00000378670.8", "refseqTranscript": "NM_014402.5", "ensemblProtein": "ENSP00000367939.3", "refseqProtein": "NP_055217.2", "exons": [ { "start": 132866642, "end": 132866687 }, { "start": 132866869, "end": 132867035 }, { "start": 132867488, "end": 132868847 } ], "cds": { "start": 132866882, "end": 132867582 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "5", "start": 132202252, "end": 132203723, "strand": "+" }, "neighbourhood": { "release": "116", "start": 132367745, "end": 133367744, "genes": [ { "symbol": "SLC22A5", "ensemblId": "ENSG00000197375", "biotype": "protein_coding", "start": 132369493, "end": 132395615, "strand": "+", "slug": "slc22a5" }, { "symbol": "", "ensemblId": "ENSG00000283782", "biotype": "protein_coding", "start": 132410832, "end": 132646079, "strand": "+" }, { "symbol": "IRF1", "ensemblId": "ENSG00000125347", "biotype": "protein_coding", "start": 132440440, "end": 132508719, "strand": "-", "slug": "irf1" }, { "symbol": "IL5", "ensemblId": "ENSG00000113525", "biotype": "protein_coding", "start": 132541444, "end": 132556838, "strand": "-", "slug": "il5" }, { "symbol": "RAD50", "ensemblId": "ENSG00000113522", "biotype": "protein_coding", "start": 132556019, "end": 132646349, "strand": "+", "slug": "rad50" }, { "symbol": "IL13", "ensemblId": "ENSG00000169194", "biotype": "protein_coding", "start": 132656263, "end": 132661110, "strand": "+", "slug": "il13" }, { "symbol": "IL4", "ensemblId": "ENSG00000113520", "biotype": "protein_coding", "start": 132673986, "end": 132682678, "strand": "+", "slug": "il4" }, { "symbol": "KIF3A", "ensemblId": "ENSG00000131437", "biotype": "protein_coding", "start": 132688806, "end": 132737638, "strand": "-", "slug": "kif3a" }, { "symbol": "CCNI2", "ensemblId": "ENSG00000205089", "biotype": "protein_coding", "start": 132747319, "end": 132765178, "strand": "+", "slug": "ccni2" }, { "symbol": "SEPTIN8", "ensemblId": "ENSG00000164402", "biotype": "protein_coding", "start": 132750138, "end": 132807241, "strand": "-", "slug": "septin8" }, { "symbol": "SOWAHA", "ensemblId": "ENSG00000198944", "biotype": "protein_coding", "start": 132813302, "end": 132816786, "strand": "+", "slug": "sowaha" }, { "symbol": "SHROOM1", "ensemblId": "ENSG00000164403", "biotype": "protein_coding", "start": 132821271, "end": 132830924, "strand": "-", "slug": "shroom1" }, { "symbol": "GDF9", "ensemblId": "ENSG00000164404", "biotype": "protein_coding", "start": 132861181, "end": 132866884, "strand": "-", "slug": "gdf9" }, { "symbol": "LEAP2", "ensemblId": "ENSG00000164406", "biotype": "protein_coding", "start": 132873444, "end": 132899343, "strand": "+", "slug": "leap2" }, { "symbol": "AFF4", "ensemblId": "ENSG00000072364", "biotype": "protein_coding", "start": 132875395, "end": 132963931, "strand": "-", "slug": "aff4" }, { "symbol": "ZCCHC10", "ensemblId": "ENSG00000155329", "biotype": "protein_coding", "start": 132996985, "end": 133026604, "strand": "-", "slug": "zcchc10" }, { "symbol": "HSPA4", "ensemblId": "ENSG00000170606", "biotype": "protein_coding", "start": 133051942, "end": 133106449, "strand": "+", "slug": "hspa4" }, { "symbol": "FSTL4", "ensemblId": "ENSG00000053108", "biotype": "protein_coding", "start": 133193430, "end": 133612688, "strand": "-", "slug": "fstl4" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "Primarna mitochondrinė liga", "diseases": [ { "mondoId": "MONDO:0000066", "name": "Mitochondrijų kvėpavimo grandinės kompleksų nepakankamumas", "genes": 61, "inheritance": null, "description": "Izoliuotas I, II, III, IV ar V komplekso nepakankamumas, kurį sukelia branduolio ar mitochondrijų genų variantai. Jis gali paveikti smegenis, raumenis, širdį, kepenis ir kitus daug energijos naudojančius organus.", "management": "Žinojimas gali nutraukti diagnozės paieškas ir padėti stebėti pažeistus organus bei vengti vaistų, toksiškų mitochondrijoms.", "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "decreased-activity-of-mitochondrial-complex-iii", "name": "Decreased activity of mitochondrial complex III", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iii" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "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": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "athetosis", "name": "Involuntary writhing movements in fingers, hands, toes, and feet", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/athetosis" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "restlessness", "name": "Restlessness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/restlessness" } ], "related": [ { "slug": "acad9", "symbol": "ACAD9", "name": "acyl-CoA dehydrogenase family member 9", "shared": 1, "url": "https://dantelabs.com/lt/genes/acad9" }, { "slug": "atp5f1a", "symbol": "ATP5F1A", "name": "ATP synthase F1 subunit alpha", "shared": 1, "url": "https://dantelabs.com/lt/genes/atp5f1a" }, { "slug": "atp5f1d", "symbol": "ATP5F1D", "name": "ATP synthase F1 subunit delta", "shared": 1, "url": "https://dantelabs.com/lt/genes/atp5f1d" }, { "slug": "atp5f1e", "symbol": "ATP5F1E", "name": "ATP synthase F1 subunit epsilon", "shared": 1, "url": "https://dantelabs.com/lt/genes/atp5f1e" }, { "slug": "bcs1l", "symbol": "BCS1L", "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone", "shared": 1, "url": "https://dantelabs.com/lt/genes/bcs1l" }, { "slug": "coa6", "symbol": "COA6", "name": "cytochrome c oxidase assembly factor 6", "shared": 1, "url": "https://dantelabs.com/lt/genes/coa6" }, { "slug": "coa8", "symbol": "COA8", "name": "cytochrome c oxidase assembly factor 8", "shared": 1, "url": "https://dantelabs.com/lt/genes/coa8" }, { "slug": "cox10", "symbol": "COX10", "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10", "shared": 1, "url": "https://dantelabs.com/lt/genes/cox10" }, { "slug": "cox15", "symbol": "COX15", "name": "cytochrome c oxidase assembly factor COX15", "shared": 1, "url": "https://dantelabs.com/lt/genes/cox15" }, { "slug": "cox16", "symbol": "COX16", "name": "cytochrome c oxidase assembly factor COX16", "shared": 1, "url": "https://dantelabs.com/lt/genes/cox16" }, { "slug": "cox20", "symbol": "COX20", "name": "cytochrome c oxidase assembly factor COX20", "shared": 1, "url": "https://dantelabs.com/lt/genes/cox20" }, { "slug": "cox6b1", "symbol": "COX6B1", "name": "cytochrome c oxidase subunit 6B1", "shared": 1, "url": "https://dantelabs.com/lt/genes/cox6b1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }