{
  "url": "https://dantelabs.com/no/genes/cp",
  "gene": {
    "slug": "cp",
    "symbol": "CP",
    "name": "ceruloplasmin",
    "hgnc": "HGNC:2295",
    "summary": null,
    "location": "3q24-q25.1",
    "locusType": "gene with protein product",
    "aliases": [
      "AB073614"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000047457",
    "entrezId": 1356,
    "omim": [
      "117700"
    ],
    "uniprot": [
      "P00450"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 149172497,
      "end": 149221829,
      "strand": "-",
      "ensemblTranscript": "ENST00000264613.11",
      "refseqTranscript": "NM_000096.4",
      "ensemblProtein": "ENSP00000264613.6",
      "refseqProtein": "NP_000087.2",
      "exons": [
        {
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          "end": 149173730
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        {
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        {
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        },
        {
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          "end": 149206339
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        {
          "start": 149207363,
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        },
        {
          "start": 149209211,
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        {
          "start": 149210167,
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        },
        {
          "start": 149212451,
          "end": 149212698
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        {
          "start": 149221647,
          "end": 149221829
        }
      ],
      "cds": {
        "start": 149173714,
        "end": 149221792
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 148880197,
      "end": 148939842,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 148697163,
      "end": 149697162,
      "genes": [
        {
          "symbol": "AGTR1",
          "ensemblId": "ENSG00000144891",
          "biotype": "protein_coding",
          "start": 148697784,
          "end": 148743045,
          "strand": "+",
          "slug": "agtr1"
        },
        {
          "symbol": "CPB1",
          "ensemblId": "ENSG00000153002",
          "biotype": "protein_coding",
          "start": 148791102,
          "end": 148860187,
          "strand": "+",
          "slug": "cpb1"
        },
        {
          "symbol": "CPA3",
          "ensemblId": "ENSG00000163751",
          "biotype": "protein_coding",
          "start": 148865278,
          "end": 148898572,
          "strand": "+",
          "slug": "cpa3"
        },
        {
          "symbol": "GYG1",
          "ensemblId": "ENSG00000163754",
          "biotype": "protein_coding",
          "start": 148991332,
          "end": 149031775,
          "strand": "+",
          "slug": "gyg1"
        },
        {
          "symbol": "HLTF",
          "ensemblId": "ENSG00000071794",
          "biotype": "protein_coding",
          "start": 149030064,
          "end": 149086559,
          "strand": "-",
          "slug": "hltf"
        },
        {
          "symbol": "HPS3",
          "ensemblId": "ENSG00000163755",
          "biotype": "protein_coding",
          "start": 149129602,
          "end": 149173732,
          "strand": "+",
          "slug": "hps3"
        },
        {
          "symbol": "TM4SF18",
          "ensemblId": "ENSG00000163762",
          "biotype": "protein_coding",
          "start": 149318498,
          "end": 149334414,
          "strand": "-",
          "slug": "tm4sf18"
        },
        {
          "symbol": "TM4SF1",
          "ensemblId": "ENSG00000169908",
          "biotype": "protein_coding",
          "start": 149369022,
          "end": 149377729,
          "strand": "-",
          "slug": "tm4sf1"
        },
        {
          "symbol": "TM4SF4",
          "ensemblId": "ENSG00000169903",
          "biotype": "protein_coding",
          "start": 149473937,
          "end": 149503394,
          "strand": "+",
          "slug": "tm4sf4"
        },
        {
          "symbol": "WWTR1",
          "ensemblId": "ENSG00000018408",
          "biotype": "protein_coding",
          "start": 149517235,
          "end": 149736714,
          "strand": "-",
          "slug": "wwtr1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-iron-metabolism-disorders",
        "name": "Arvelige jernmetabolismeforstyrrelser",
        "diseases": [
          {
            "mondoId": "MONDO:0011426",
            "name": "Aseruloplasminemi",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Forårsaket av endringer i CP. Jern hoper seg gradvis opp i hjernen, bukspyttkjertelen, leveren og netthinnen i voksen alder, noe som fører til mild anemi, diabetes, endringer i netthinnen og bevegelses- eller hukommelsesproblemer.",
            "management": "Tidlig start med jernkelering kan forhindre eller bremse skade på hjernen og andre organer.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/inherited-iron-metabolism-disorders"
      },
      {
        "slug": "neurodegeneration-with-brain-iron-accumulation",
        "name": "Nevrodegenerasjon med hjernejernopphopning (NBIA)",
        "diseases": [
          {
            "mondoId": "MONDO:0018307",
            "name": "Nevrodegenerasjon med hjernejernopphopning",
            "genes": 10,
            "inheritance": null,
            "description": "En gruppe sykdommer som omfatter PKAN (PANK2), PLAN (PLA2G6), MPAN (C19orf12), BPAN (WDR45), nevroferritinopati (FTL) og aseruloplasminemi (CP), med overveiende recessiv arv.",
            "management": "Symptombehandling ved dystoni og parkinsonisme, jernkelering ved aseruloplasminemi, og bærertesting for slektninger ved recessive former.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/neurodegeneration-with-brain-iron-accumulation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-enzyme-concentration-or-activity",
        "name": "Abnormal circulating enzyme concentration or activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity"
      },
      {
        "slug": "abnormal-corpus-striatum-morphology",
        "name": "Abnormal corpus striatum morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-corpus-striatum-morphology"
      },
      {
        "slug": "craniofacial-dystonia",
        "name": "Abnormal craniofacial muscle tone",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/craniofacial-dystonia"
      },
      {
        "slug": "abnormal-dentate-nucleus-morphology",
        "name": "Abnormal dentate nucleus morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-dentate-nucleus-morphology"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormal-thalamic-mri-signal-intensity",
        "name": "Abnormal thalamic MRI signal intensity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-thalamic-mri-signal-intensity"
      },
      {
        "slug": "abnormality-of-extrapyramidal-motor-function",
        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "abnormal-pancreas-morphology",
        "name": "Abnormally shaped pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pancreas-morphology"
      },
      {
        "slug": "aceruloplasminemia",
        "name": "Aceruloplasminemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aceruloplasminemia"
      },
      {
        "slug": "akinesia",
        "name": "Akinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/akinesia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "cogwheel-rigidity",
        "name": "Cogwheel rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/cogwheel-rigidity"
      },
      {
        "slug": "decreased-circulating-copper-concentration",
        "name": "Copper deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-copper-concentration"
      },
      {
        "slug": "decreased-circulating-iron-concentration",
        "name": "Decreased circulating iron concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-iron-concentration"
      },
      {
        "slug": "decreased-circulating-ceruloplasmin-concentration",
        "name": "Decreased serum ceruloplasmin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-ceruloplasmin-concentration"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "increased-circulating-ferritin-concentration",
        "name": "Elevated serum ferritin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration"
      },
      {
        "slug": "scanning-speech",
        "name": "Explosive speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/scanning-speech"
      },
      {
        "slug": "blepharospasm",
        "name": "Eyelid spasm",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blepharospasm"
      },
      {
        "slug": "facial-grimacing",
        "name": "Facial grimacing",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-grimacing"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "hypochromic-microcytic-anemia",
        "name": "Hypochromic microcytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypochromic-microcytic-anemia"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "elevated-hepatic-iron-concentration",
        "name": "Increased iron concentration in liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-hepatic-iron-concentration"
      },
      {
        "slug": "involuntary-movements",
        "name": "Involuntary movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/involuntary-movements"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "iron-accumulation-in-brain",
        "name": "Iron accumulation in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iron-accumulation-in-brain"
      },
      {
        "slug": "apathy",
        "name": "Lack of feeling, emotion, interest",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apathy"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "macular-degeneration",
        "name": "Macular degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macular-degeneration"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "refractory-anemia",
        "name": "Refractory anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/refractory-anemia"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "torticollis",
        "name": "Wry neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/torticollis"
      }
    ],
    "related": [
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "name": "ATPase cation transporting 13A2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp13a2"
      },
      {
        "slug": "c19orf12",
        "symbol": "C19orf12",
        "name": "chromosome 19 open reading frame 12",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/c19orf12"
      },
      {
        "slug": "coasy",
        "symbol": "COASY",
        "name": "Coenzyme A synthase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/coasy"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "name": "DDB1 and CUL4 associated factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dcaf17"
      },
      {
        "slug": "fth1",
        "symbol": "FTH1",
        "name": "ferritin heavy chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/fth1"
      },
      {
        "slug": "ftl",
        "symbol": "FTL",
        "name": "ferritin light chain",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ftl"
      },
      {
        "slug": "pank2",
        "symbol": "PANK2",
        "name": "pantothenate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/pank2"
      },
      {
        "slug": "pla2g6",
        "symbol": "PLA2G6",
        "name": "phospholipase A2 group VI",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/pla2g6"
      },
      {
        "slug": "wdr45",
        "symbol": "WDR45",
        "name": "WD repeat domain 45",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/wdr45"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}