{
  "url": "https://dantelabs.com/de/genes/sfxn4",
  "gene": {
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    "symbol": "SFXN4",
    "name": "sideroflexin 4",
    "hgnc": "HGNC:16088",
    "summary": null,
    "location": "10q26.11",
    "locusType": "gene with protein product",
    "aliases": [
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    "previousSymbols": [],
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    "uniprot": [
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      "release": "v1.5",
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      "strand": "-",
      "ensemblTranscript": "ENST00000355697.7",
      "refseqTranscript": "NM_213649.2",
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    },
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      "build": "GRCh37",
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      "end": 120925179,
      "strand": "-"
    },
    "neighbourhood": {
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        {
          "symbol": "CACUL1",
          "ensemblId": "ENSG00000151893",
          "biotype": "protein_coding",
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          "end": 118755249,
          "strand": "-",
          "slug": "cacul1"
        },
        {
          "symbol": "NANOS1",
          "ensemblId": "ENSG00000188613",
          "biotype": "protein_coding",
          "start": 119029714,
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          "strand": "+",
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        {
          "symbol": "EIF3A",
          "ensemblId": "ENSG00000107581",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "eif3a"
        },
        {
          "symbol": "DENND10",
          "ensemblId": "ENSG00000119979",
          "biotype": "protein_coding",
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          "end": 119137986,
          "strand": "+",
          "slug": "dennd10"
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        {
          "symbol": "PRDX3",
          "ensemblId": "ENSG00000165672",
          "biotype": "protein_coding",
          "start": 119167699,
          "end": 119178865,
          "strand": "-",
          "slug": "prdx3"
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        {
          "symbol": "GRK5",
          "ensemblId": "ENSG00000198873",
          "biotype": "protein_coding",
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          "end": 119459758,
          "strand": "+",
          "slug": "grk5"
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        {
          "symbol": "RGS10",
          "ensemblId": "ENSG00000148908",
          "biotype": "protein_coding",
          "start": 119499603,
          "end": 119543620,
          "strand": "-",
          "slug": "rgs10"
        },
        {
          "symbol": "TIAL1",
          "ensemblId": "ENSG00000151923",
          "biotype": "protein_coding",
          "start": 119571802,
          "end": 119597181,
          "strand": "-",
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        },
        {
          "symbol": "BAG3",
          "ensemblId": "ENSG00000151929",
          "biotype": "protein_coding",
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          "end": 119677913,
          "strand": "+",
          "slug": "bag3"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primäre mitochondriale Erkrankung",
        "diseases": [
          {
            "mondoId": "MONDO:0000732",
            "name": "Kombinierter Defekt der oxidativen Phosphorylierung",
            "genes": 48,
            "inheritance": null,
            "description": "Erkrankungen, meist verursacht durch Kerngene, die an der Produktion mitochondrialer Proteine beteiligt sind. Sie vermindern mehrere Komplexe der Atmungskette gleichzeitig und führen häufig im Kindesalter zu schweren Erkrankungen mehrerer Organsysteme.",
            "management": "Ein Befund kann eine diagnostische Suche beenden und die Überwachung sowie unterstützende Betreuung leiten.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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": "delayed-fine-motor-development",
        "name": "Delayed fine motor development",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-fine-motor-development"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "difficulty-running",
        "name": "Difficulty running",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/difficulty-running"
      },
      {
        "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": "hypersegmentation-of-neutrophil-nuclei",
        "name": "Hypersegmentation of neutrophil nuclei",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypersegmentation-of-neutrophil-nuclei"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "increased-mitochondrial-number",
        "name": "Increased mitochondrial number",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-mitochondrial-number"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "macrocytic-anemia",
        "name": "Macrocytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocytic-anemia"
      },
      {
        "slug": "methylmalonic-aciduria",
        "name": "Methylmalonic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/methylmalonic-aciduria"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aars2"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aifm1"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atp5f1e"
      },
      {
        "slug": "atp5po",
        "symbol": "ATP5PO",
        "name": "ATP synthase peripheral stalk subunit OSCP",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atp5po"
      },
      {
        "slug": "c1qbp",
        "symbol": "C1QBP",
        "name": "complement C1q binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/c1qbp"
      },
      {
        "slug": "c2orf69",
        "symbol": "C2orf69",
        "name": "chromosome 2 open reading frame 69",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/c2orf69"
      },
      {
        "slug": "cars2",
        "symbol": "CARS2",
        "name": "cysteinyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cars2"
      },
      {
        "slug": "crls1",
        "symbol": "CRLS1",
        "name": "cardiolipin synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/crls1"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ears2"
      },
      {
        "slug": "elac2",
        "symbol": "ELAC2",
        "name": "elaC ribonuclease Z 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/elac2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}