{
  "url": "https://dantelabs.com/no/genes/nfs1",
  "gene": {
    "slug": "nfs1",
    "symbol": "NFS1",
    "name": "NFS1 cysteine desulfurase",
    "hgnc": "HGNC:15910",
    "summary": null,
    "location": "20q11.22",
    "locusType": "gene with protein product",
    "aliases": [
      "NifS",
      "IscS"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000244005",
    "entrezId": 9054,
    "omim": [
      "603485"
    ],
    "uniprot": [
      "Q9Y697"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 35668052,
      "end": 35699352,
      "strand": "-",
      "ensemblTranscript": "ENST00000374092.9",
      "refseqTranscript": "NM_021100.5",
      "ensemblProtein": "ENSP00000363205.3",
      "refseqProtein": "NP_066923.3",
      "exons": [
        {
          "start": 35668052,
          "end": 35669685
        },
        {
          "start": 35672755,
          "end": 35672844
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        {
          "start": 35674350,
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        {
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          "end": 35698590
        },
        {
          "start": 35699192,
          "end": 35699352
        }
      ],
      "cds": {
        "start": 35669622,
        "end": 35699288
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 34255977,
      "end": 34287281,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 35183702,
      "end": 36183701,
      "genes": [
        {
          "symbol": "PROCR",
          "ensemblId": "ENSG00000101000",
          "biotype": "protein_coding",
          "start": 35153330,
          "end": 35216253,
          "strand": "+",
          "slug": "procr"
        },
        {
          "symbol": "MMP24OS",
          "ensemblId": "ENSG00000126005",
          "biotype": "protein_coding",
          "start": 35201745,
          "end": 35278131,
          "strand": "-",
          "slug": "mmp24os"
        },
        {
          "symbol": "MMP24",
          "ensemblId": "ENSG00000125966",
          "biotype": "protein_coding",
          "start": 35226559,
          "end": 35277030,
          "strand": "+",
          "slug": "mmp24"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000261582",
          "biotype": "protein_coding",
          "start": 35267885,
          "end": 35280043,
          "strand": "-"
        },
        {
          "symbol": "EIF6",
          "ensemblId": "ENSG00000242372",
          "biotype": "protein_coding",
          "start": 35278891,
          "end": 35285009,
          "strand": "-",
          "slug": "eif6"
        },
        {
          "symbol": "SACK1C",
          "ensemblId": "ENSG00000125998",
          "biotype": "protein_coding",
          "start": 35285731,
          "end": 35292425,
          "strand": "-",
          "slug": "sack1c"
        },
        {
          "symbol": "UQCC1",
          "ensemblId": "ENSG00000101019",
          "biotype": "protein_coding",
          "start": 35301219,
          "end": 35412070,
          "strand": "-",
          "slug": "uqcc1"
        },
        {
          "symbol": "GDF5",
          "ensemblId": "ENSG00000125965",
          "biotype": "protein_coding",
          "start": 35433347,
          "end": 35454754,
          "strand": "-",
          "slug": "gdf5"
        },
        {
          "symbol": "CEP250",
          "ensemblId": "ENSG00000126001",
          "biotype": "protein_coding",
          "start": 35455131,
          "end": 35519280,
          "strand": "+",
          "slug": "cep250"
        },
        {
          "symbol": "C20orf173",
          "ensemblId": "ENSG00000125975",
          "biotype": "protein_coding",
          "start": 35523186,
          "end": 35529652,
          "strand": "-",
          "slug": "c20orf173"
        },
        {
          "symbol": "ERGIC3",
          "ensemblId": "ENSG00000125991",
          "biotype": "protein_coding",
          "start": 35542022,
          "end": 35557634,
          "strand": "+",
          "slug": "ergic3"
        },
        {
          "symbol": "SPAG4",
          "ensemblId": "ENSG00000061656",
          "biotype": "protein_coding",
          "start": 35615594,
          "end": 35621613,
          "strand": "+",
          "slug": "spag4"
        },
        {
          "symbol": "CPNE1",
          "ensemblId": "ENSG00000214078",
          "biotype": "protein_coding",
          "start": 35626031,
          "end": 35664962,
          "strand": "-",
          "slug": "cpne1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272897",
          "biotype": "protein_coding",
          "start": 35632340,
          "end": 35674544,
          "strand": "-"
        },
        {
          "symbol": "RBM12",
          "ensemblId": "ENSG00000244462",
          "biotype": "protein_coding",
          "start": 35648925,
          "end": 35664956,
          "strand": "-",
          "slug": "rbm12"
        },
        {
          "symbol": "ROMO1",
          "ensemblId": "ENSG00000125995",
          "biotype": "protein_coding",
          "start": 35699228,
          "end": 35703939,
          "strand": "+",
          "slug": "romo1"
        },
        {
          "symbol": "RBM39",
          "ensemblId": "ENSG00000131051",
          "biotype": "protein_coding",
          "start": 35701347,
          "end": 35742312,
          "strand": "-",
          "slug": "rbm39"
        },
        {
          "symbol": "PHF20",
          "ensemblId": "ENSG00000025293",
          "biotype": "protein_coding",
          "start": 35771947,
          "end": 35950385,
          "strand": "+",
          "slug": "phf20"
        },
        {
          "symbol": "SCAND1",
          "ensemblId": "ENSG00000171222",
          "biotype": "protein_coding",
          "start": 35953617,
          "end": 35959472,
          "strand": "-",
          "slug": "scand1"
        },
        {
          "symbol": "CNBD2",
          "ensemblId": "ENSG00000149646",
          "biotype": "protein_coding",
          "start": 35954564,
          "end": 36030700,
          "strand": "+",
          "slug": "cnbd2"
        },
        {
          "symbol": "EPB41L1",
          "ensemblId": "ENSG00000088367",
          "biotype": "protein_coding",
          "start": 36091504,
          "end": 36232799,
          "strand": "+",
          "slug": "epb41l1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primær mitokondriesykdom",
        "diseases": [
          {
            "mondoId": "MONDO:0000732",
            "name": "Kombinert mangel på oksidativ fosforylering",
            "genes": 48,
            "inheritance": null,
            "description": "Sykdommer, vanligvis forårsaket av kjernegener som er involvert i produksjonen av mitokondrielle proteiner. De reduserer flere respirasjonskjede-komplekser samtidig og gir ofte alvorlig sykdom i flere organsystemer i barndommen.",
            "management": "Å få vite dette kan avslutte en diagnostisk leting og veilede oppfølging og støttende behandling.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "adrenal-insufficiency",
        "name": "Adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adrenal-insufficiency"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-ii",
        "name": "Decreased activity of mitochondrial complex II",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-ii"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iii",
        "name": "Decreased activity of mitochondrial complex III",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iii"
      },
      {
        "slug": "disseminated-intravascular-coagulation",
        "name": "Disseminated intravascular coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/disseminated-intravascular-coagulation"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "hyperglycinemia",
        "name": "Elevated blood glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperglycinemia"
      },
      {
        "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": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "lacticaciduria",
        "name": "High urine lactic acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lacticaciduria"
      },
      {
        "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": "hyperamylasemia",
        "name": "Hyperamylasemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperamylasemia"
      },
      {
        "slug": "hyperalaninemia",
        "name": "Increased blood alanine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperalaninemia"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "pancreatitis",
        "name": "Pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancreatitis"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      }
    ],
    "related": [
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aars2"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aifm1"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5f1e"
      },
      {
        "slug": "atp5po",
        "symbol": "ATP5PO",
        "name": "ATP synthase peripheral stalk subunit OSCP",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5po"
      },
      {
        "slug": "c1qbp",
        "symbol": "C1QBP",
        "name": "complement C1q binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/c1qbp"
      },
      {
        "slug": "c2orf69",
        "symbol": "C2orf69",
        "name": "chromosome 2 open reading frame 69",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/c2orf69"
      },
      {
        "slug": "cars2",
        "symbol": "CARS2",
        "name": "cysteinyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cars2"
      },
      {
        "slug": "crls1",
        "symbol": "CRLS1",
        "name": "cardiolipin synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/crls1"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ears2"
      },
      {
        "slug": "elac2",
        "symbol": "ELAC2",
        "name": "elaC ribonuclease Z 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/elac2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}