{ "url": "https://dantelabs.com/da/genes/ndufaf3", "gene": { "slug": "ndufaf3", "symbol": "NDUFAF3", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 3", "hgnc": "HGNC:29918", "summary": null, "location": "3p21.31", "locusType": "gene with protein product", "aliases": [ "MGC10527", "DKFZP564J0123", "E3-3", "2P1" ], "previousSymbols": [ "C3orf60" ], "ensemblId": "ENSG00000178057", "entrezId": 25915, "omim": [ "612911" ], "uniprot": [ "Q9BU61" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 49022121, "end": 49023495, "strand": "+", "ensemblTranscript": "ENST00000326925.11", "refseqTranscript": "NM_199069.2", "ensemblProtein": "ENSP00000323076.5", "refseqProtein": "NP_951032.1", "exons": [ { "start": 49022121, "end": 49022221 }, { "start": 49022346, "end": 49022538 }, { "start": 49022702, "end": 49022768 }, { "start": 49022876, "end": 49022976 }, { "start": 49023056, "end": 49023495 } ], "cds": { "start": 49022145, "end": 49023172 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 49057892, "end": 49060928, "strand": "+" }, "neighbourhood": { "release": "116", "start": 48522808, "end": 49522807, "genes": [ { "symbol": "PFKFB4", "ensemblId": "ENSG00000114268", "biotype": "protein_coding", "start": 48517668, "end": 48562015, "strand": "-", "slug": "pfkfb4" }, { "symbol": "UCN2", "ensemblId": "ENSG00000145040", "biotype": "protein_coding", "start": 48561718, "end": 48563781, "strand": "-", "slug": "ucn2" }, { "symbol": "COL7A1", "ensemblId": "ENSG00000114270", "biotype": "protein_coding", "start": 48564073, "end": 48595596, "strand": "-", "slug": "col7a1" }, { "symbol": "UQCRC1", "ensemblId": "ENSG00000010256", "biotype": "protein_coding", "start": 48598990, "end": 48610976, "strand": "-", "slug": "uqcrc1" }, { "symbol": "TMEM89", "ensemblId": "ENSG00000183396", "biotype": "protein_coding", "start": 48620759, "end": 48621769, "strand": "-", "slug": "tmem89" }, { "symbol": "SLC26A6", "ensemblId": "ENSG00000225697", "biotype": "protein_coding", "start": 48625718, "end": 48635510, "strand": "-", "slug": "slc26a6" }, { "symbol": "CELSR3", "ensemblId": "ENSG00000008300", "biotype": "protein_coding", "start": 48636463, "end": 48662886, "strand": "-", "slug": "celsr3" }, { "symbol": "NCKIPSD", "ensemblId": "ENSG00000213672", "biotype": "protein_coding", "start": 48662986, "end": 48686364, "strand": "-", "slug": "nckipsd" }, { "symbol": "IP6K2", "ensemblId": "ENSG00000068745", "biotype": "protein_coding", "start": 48688003, "end": 48740353, "strand": "-", "slug": "ip6k2" }, { "symbol": "PRKAR2A", "ensemblId": "ENSG00000114302", "biotype": "protein_coding", "start": 48744591, "end": 48847894, "strand": "-", "slug": "prkar2a" }, { "symbol": "SLC25A20", "ensemblId": "ENSG00000178537", "biotype": "protein_coding", "start": 48856926, "end": 48898993, "strand": "-", "slug": "slc25a20" }, { "symbol": "ARIH2", "ensemblId": "ENSG00000177479", "biotype": "protein_coding", "start": 48918217, "end": 48986382, "strand": "+", "slug": "arih2" }, { "symbol": "P4HTM", "ensemblId": "ENSG00000178467", "biotype": "protein_coding", "start": 48989858, "end": 49007153, "strand": "+", "slug": "p4htm" }, { "symbol": "WDR6", "ensemblId": "ENSG00000178252", "biotype": "protein_coding", "start": 49007062, "end": 49015953, "strand": "+", "slug": "wdr6" }, { "symbol": "DALRD3", "ensemblId": "ENSG00000178149", "biotype": "protein_coding", "start": 49015474, "end": 49022293, "strand": "-", "slug": "dalrd3" }, { "symbol": "IMPDH2", "ensemblId": "ENSG00000178035", "biotype": "protein_coding", "start": 49024315, "end": 49029452, "strand": "-", "slug": "impdh2" }, { "symbol": "", "ensemblId": "ENSG00000290315", "biotype": "protein_coding", "start": 49024345, "end": 49094071, "strand": "-" }, { "symbol": "QRICH1", "ensemblId": "ENSG00000198218", "biotype": "protein_coding", "start": 49029700, "end": 49094545, "strand": "-", "slug": "qrich1" }, { "symbol": "QARS1", "ensemblId": "ENSG00000172053", "biotype": "protein_coding", "start": 49095932, "end": 49105130, "strand": "-", "slug": "qars1" }, { "symbol": "USP19", "ensemblId": "ENSG00000172046", "biotype": "protein_coding", "start": 49105758, "end": 49120940, "strand": "-", "slug": "usp19" }, { "symbol": "LAMB2", "ensemblId": "ENSG00000172037", "biotype": "protein_coding", "start": 49121113, "end": 49133118, "strand": "-", "slug": "lamb2" }, { "symbol": "CCDC71", "ensemblId": "ENSG00000177352", "biotype": "protein_coding", "start": 49161063, "end": 49166357, "strand": "-", "slug": "ccdc71" }, { "symbol": "KLHDC8B", "ensemblId": "ENSG00000185909", "biotype": "protein_coding", "start": 49171239, "end": 49176487, "strand": "+", "slug": "klhdc8b" }, { "symbol": "CIMIP7", "ensemblId": "ENSG00000236980", "biotype": "protein_coding", "start": 49177634, "end": 49191858, "strand": "-", "slug": "cimip7" }, { "symbol": "IHO1", "ensemblId": "ENSG00000173421", "biotype": "protein_coding", "start": 49198428, "end": 49277629, "strand": "+", "slug": "iho1" }, { "symbol": "C3orf62", "ensemblId": "ENSG00000188315", "biotype": "protein_coding", "start": 49268596, "end": 49277236, "strand": "-", "slug": "c3orf62" }, { "symbol": "USP4", "ensemblId": "ENSG00000114316", "biotype": "protein_coding", "start": 49277144, "end": 49340712, "strand": "-", "slug": "usp4" }, { "symbol": "GPX1", "ensemblId": "ENSG00000233276", "biotype": "protein_coding", "start": 49357174, "end": 49358605, "strand": "-", "slug": "gpx1" }, { "symbol": "", "ensemblId": "ENSG00000290318", "biotype": "protein_coding", "start": 49357176, "end": 49412051, "strand": "-" }, { "symbol": "RHOA", "ensemblId": "ENSG00000067560", "biotype": "protein_coding", "start": 49359136, "end": 49412998, "strand": "-", "slug": "rhoa" }, { "symbol": "TCTA", "ensemblId": "ENSG00000145022", "biotype": "protein_coding", "start": 49412212, "end": 49455826, "strand": "+", "slug": "tcta" }, { "symbol": "AMT", "ensemblId": "ENSG00000145020", "biotype": "protein_coding", "start": 49416771, "end": 49422685, "strand": "-", "slug": "amt" }, { "symbol": "", "ensemblId": "ENSG00000283189", "biotype": "protein_coding", "start": 49416777, "end": 49429314, "strand": "-" }, { "symbol": "NICN1", "ensemblId": "ENSG00000145029", "biotype": "protein_coding", "start": 49422333, "end": 49429331, "strand": "-", "slug": "nicn1" }, { "symbol": "DAG1", "ensemblId": "ENSG00000173402", "biotype": "protein_coding", "start": 49468649, "end": 49535624, "strand": "+", "slug": "dag1" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "Primær mitokondriel sygdom", "diseases": [ { "mondoId": "MONDO:0000066", "name": "Mangel på mitokondriel respirationskæde-kompleks", "genes": 61, "inheritance": null, "description": "Isolerede mangler i kompleks I, II, III, IV eller V, forårsaget af varianter i kernegener eller mitokondriegener. De kan påvirke hjernen, musklerne, hjertet, leveren og andre organer med stort energibehov.", "management": "Viden kan afslutte en diagnostisk søgen og vejlede overvågning af berørte organer samt undgåelse af lægemidler, der er giftige for mitokondrierne.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/da/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-mitochondria-in-muscle-tissue", "name": "Abnormal mitochondria in muscle tissue", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-mitochondria-in-muscle-tissue" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "optic-neuropathy", "name": "Damaged optic nerve", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/optic-neuropathy" }, { "slug": "decreased-activity-of-mitochondrial-complex-i", "name": "Decreased activity of mitochondrial complex I", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/encephalopathy" }, { "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": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "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": "fetal-distress", "name": "Fetal distress", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fetal-distress" }, { "slug": "focal-t2-hyperintense-brainstem-lesion", "name": "Focal T2 hyperintense brainstem lesion", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/focal-t2-hyperintense-brainstem-lesion" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hydronephrosis", "name": "Hydronephrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydronephrosis" }, { "slug": "hydroureter", "name": "Hydroureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydroureter" }, { "slug": "increased-circulating-pyruvate-concentration", "name": "Increased circulating pyruvate concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration" }, { "slug": "increased-csf-lactate", "name": "Increased CSF lactate", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-csf-lactate" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "leukoencephalopathy", "name": "Leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/leukoencephalopathy" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "mitochondrial-myopathy", "name": "Mitochondrial myopathy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mitochondrial-myopathy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "myoclonic-seizure", "name": "Myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "paroxysmal-involuntary-eye-movements", "name": "Paroxysmal involuntary eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/paroxysmal-involuntary-eye-movements" }, { "slug": "reduced-eye-contact", "name": "Poor eye contact", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-eye-contact" }, { "slug": "poor-head-control", "name": "Poor head control", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/poor-head-control" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "proximal-tubulopathy", "name": "Proximal tubulopathy", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/proximal-tubulopathy" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "wide-anterior-fontanel", "name": "Wider-than-typical soft spot of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-anterior-fontanel" } ], "related": [ { "slug": "acad9", "symbol": "ACAD9", "name": "acyl-CoA dehydrogenase family member 9", "shared": 1, "url": "https://dantelabs.com/da/genes/acad9" }, { "slug": "atp5f1a", "symbol": "ATP5F1A", "name": "ATP synthase F1 subunit alpha", "shared": 1, "url": "https://dantelabs.com/da/genes/atp5f1a" }, { "slug": "atp5f1d", "symbol": "ATP5F1D", "name": "ATP synthase F1 subunit delta", "shared": 1, "url": "https://dantelabs.com/da/genes/atp5f1d" }, { "slug": "atp5f1e", "symbol": "ATP5F1E", "name": "ATP synthase F1 subunit epsilon", "shared": 1, "url": "https://dantelabs.com/da/genes/atp5f1e" }, { "slug": "bcs1l", "symbol": "BCS1L", "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone", "shared": 1, "url": "https://dantelabs.com/da/genes/bcs1l" }, { "slug": "coa6", "symbol": "COA6", "name": "cytochrome c oxidase assembly factor 6", "shared": 1, "url": "https://dantelabs.com/da/genes/coa6" }, { "slug": "coa8", "symbol": "COA8", "name": "cytochrome c oxidase assembly factor 8", "shared": 1, "url": "https://dantelabs.com/da/genes/coa8" }, { "slug": "cox10", "symbol": "COX10", "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10", "shared": 1, "url": "https://dantelabs.com/da/genes/cox10" }, { "slug": "cox15", "symbol": "COX15", "name": "cytochrome c oxidase assembly factor COX15", "shared": 1, "url": "https://dantelabs.com/da/genes/cox15" }, { "slug": "cox16", "symbol": "COX16", "name": "cytochrome c oxidase assembly factor COX16", "shared": 1, "url": "https://dantelabs.com/da/genes/cox16" }, { "slug": "cox20", "symbol": "COX20", "name": "cytochrome c oxidase assembly factor COX20", "shared": 1, "url": "https://dantelabs.com/da/genes/cox20" }, { "slug": "cox6b1", "symbol": "COX6B1", "name": "cytochrome c oxidase subunit 6B1", "shared": 1, "url": "https://dantelabs.com/da/genes/cox6b1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }