{ "url": "https://dantelabs.com/ko/genes/uqcrb", "gene": { "slug": "uqcrb", "symbol": "UQCRB", "name": "ubiquinol-cytochrome c reductase binding protein", "hgnc": "HGNC:12582", "summary": null, "location": "8q22.1", "locusType": "gene with protein product", "aliases": [ "QP-C", "QCR7", "UQCR6" ], "previousSymbols": [ "UQBP" ], "ensemblId": "ENSG00000156467", "entrezId": 7381, "omim": [ "191330" ], "uniprot": [ "P14927" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "8", "start": 96222947, "end": 96235545, "strand": "-", "ensemblTranscript": "ENST00000287022.10", "refseqTranscript": "NM_006294.5", "ensemblProtein": "ENSP00000287022.5", "refseqProtein": "NP_006285.1", "exons": [ { "start": 96222947, "end": 96231132 }, { "start": 96231774, "end": 96231940 }, { "start": 96233156, "end": 96233227 }, { "start": 96235512, "end": 96235545 } ], "cds": { "start": 96231055, "end": 96235530 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "8", "start": 97238148, "end": 97247862, "strand": "-" }, "neighbourhood": { "release": "116", "start": 95729246, "end": 96729245, "genes": [ { "symbol": "GDF6", "ensemblId": "ENSG00000156466", "biotype": "protein_coding", "start": 96142333, "end": 96160813, "strand": "-", "slug": "gdf6" }, { "symbol": "MTERF3", "ensemblId": "ENSG00000156469", "biotype": "protein_coding", "start": 96238162, "end": 96261626, "strand": "-", "slug": "mterf3" }, { "symbol": "PTDSS1", "ensemblId": "ENSG00000156471", "biotype": "protein_coding", "start": 96261885, "end": 96386078, "strand": "+", "slug": "ptdss1" }, { "symbol": "SDC2", "ensemblId": "ENSG00000169439", "biotype": "protein_coding", "start": 96493410, "end": 96613465, "strand": "+", "slug": "sdc2" }, { "symbol": "CPQ", "ensemblId": "ENSG00000104324", "biotype": "protein_coding", "start": 96644982, "end": 97152036, "strand": "+", "slug": "cpq" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "원발성 미토콘드리아 질환", "diseases": [ { "mondoId": "MONDO:0000066", "name": "미토콘드리아 호흡사슬 복합체 결핍증", "genes": 61, "inheritance": null, "description": "핵 또는 미토콘드리아 유전자의 변이로 인해 복합체 I, II, III, IV 또는 V가 단독으로 결핍되는 질환으로, 뇌, 근육, 심장, 간 등 에너지를 많이 요구하는 장기에 영향을 줄 수 있습니다.", "management": "이 결과를 알면 진단을 위한 검사를 마무리할 수 있고, 영향을 받은 장기에 대한 추적 관찰과 미토콘드리아에 독성을 나타내는 약물의 회피를 안내받을 수 있습니다.", "evidence": { "gencc": [ "G2P", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ko/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "alaninuria", "name": "Alaninuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/alaninuria" }, { "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": "elevated-circulating-alanine-aminotransferase-concentration", "name": "Elevated circulating alanine aminotransferase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration" }, { "slug": "elevated-circulating-aspartate-aminotransferase-concentration", "name": "Elevated circulating aspartate aminotransferase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "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": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "metabolic-acidosis", "name": "Metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/metabolic-acidosis" } ], "related": [ { "slug": "acad9", "symbol": "ACAD9", "name": "acyl-CoA dehydrogenase family member 9", "shared": 1, "url": "https://dantelabs.com/ko/genes/acad9" }, { "slug": "atp5f1a", "symbol": "ATP5F1A", "name": "ATP synthase F1 subunit alpha", "shared": 1, "url": "https://dantelabs.com/ko/genes/atp5f1a" }, { "slug": "atp5f1d", "symbol": "ATP5F1D", "name": "ATP synthase F1 subunit delta", "shared": 1, "url": "https://dantelabs.com/ko/genes/atp5f1d" }, { "slug": "atp5f1e", "symbol": "ATP5F1E", "name": "ATP synthase F1 subunit epsilon", "shared": 1, "url": "https://dantelabs.com/ko/genes/atp5f1e" }, { "slug": "bcs1l", "symbol": "BCS1L", "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone", "shared": 1, "url": "https://dantelabs.com/ko/genes/bcs1l" }, { "slug": "coa6", "symbol": "COA6", "name": "cytochrome c oxidase assembly factor 6", "shared": 1, "url": "https://dantelabs.com/ko/genes/coa6" }, { "slug": "coa8", "symbol": "COA8", "name": "cytochrome c oxidase assembly factor 8", "shared": 1, "url": "https://dantelabs.com/ko/genes/coa8" }, { "slug": "cox10", "symbol": "COX10", "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10", "shared": 1, "url": "https://dantelabs.com/ko/genes/cox10" }, { "slug": "cox15", "symbol": "COX15", "name": "cytochrome c oxidase assembly factor COX15", "shared": 1, "url": "https://dantelabs.com/ko/genes/cox15" }, { "slug": "cox16", "symbol": "COX16", "name": "cytochrome c oxidase assembly factor COX16", "shared": 1, "url": "https://dantelabs.com/ko/genes/cox16" }, { "slug": "cox20", "symbol": "COX20", "name": "cytochrome c oxidase assembly factor COX20", "shared": 1, "url": "https://dantelabs.com/ko/genes/cox20" }, { "slug": "cox6b1", "symbol": "COX6B1", "name": "cytochrome c oxidase subunit 6B1", "shared": 1, "url": "https://dantelabs.com/ko/genes/cox6b1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }