{
  "url": "https://dantelabs.com/hu/genes/c1qbp",
  "gene": {
    "slug": "c1qbp",
    "symbol": "C1QBP",
    "name": "complement C1q binding protein",
    "hgnc": "HGNC:1243",
    "summary": null,
    "location": "17p13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "gC1Q-R",
      "gC1qR",
      "p32",
      "SF2p32"
    ],
    "previousSymbols": [
      "HABP1"
    ],
    "ensemblId": "ENSG00000108561",
    "entrezId": 708,
    "omim": [
      "601269"
    ],
    "uniprot": [
      "Q07021"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 5432777,
      "end": 5439155,
      "strand": "-",
      "ensemblTranscript": "ENST00000225698.8",
      "refseqTranscript": "NM_001212.4",
      "ensemblProtein": "ENSP00000225698.4",
      "refseqProtein": "NP_001203.1",
      "exons": [
        {
          "start": 5432777,
          "end": 5433164
        },
        {
          "start": 5433293,
          "end": 5433415
        },
        {
          "start": 5433669,
          "end": 5433767
        },
        {
          "start": 5434873,
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        },
        {
          "start": 5438123,
          "end": 5438273
        },
        {
          "start": 5438842,
          "end": 5439155
        }
      ],
      "cds": {
        "start": 5433015,
        "end": 5439073
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 5336097,
      "end": 5352150,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 4935966,
      "end": 5935965,
      "genes": [
        {
          "symbol": "SLC25A11",
          "ensemblId": "ENSG00000108528",
          "biotype": "protein_coding",
          "start": 4934570,
          "end": 4940156,
          "strand": "-",
          "slug": "slc25a11"
        },
        {
          "symbol": "RNF167",
          "ensemblId": "ENSG00000108523",
          "biotype": "protein_coding",
          "start": 4939997,
          "end": 4945223,
          "strand": "+",
          "slug": "rnf167"
        },
        {
          "symbol": "PFN1",
          "ensemblId": "ENSG00000108518",
          "biotype": "protein_coding",
          "start": 4945652,
          "end": 4950517,
          "strand": "-",
          "slug": "pfn1"
        },
        {
          "symbol": "ENO3",
          "ensemblId": "ENSG00000108515",
          "biotype": "protein_coding",
          "start": 4948034,
          "end": 4957132,
          "strand": "+",
          "slug": "eno3"
        },
        {
          "symbol": "SPAG7",
          "ensemblId": "ENSG00000091640",
          "biotype": "protein_coding",
          "start": 4959226,
          "end": 4967835,
          "strand": "-",
          "slug": "spag7"
        },
        {
          "symbol": "CAMTA2",
          "ensemblId": "ENSG00000108509",
          "biotype": "protein_coding",
          "start": 4967992,
          "end": 4987684,
          "strand": "-",
          "slug": "camta2"
        },
        {
          "symbol": "INCA1",
          "ensemblId": "ENSG00000196388",
          "biotype": "protein_coding",
          "start": 4988130,
          "end": 4999117,
          "strand": "-",
          "slug": "inca1"
        },
        {
          "symbol": "KIF1C",
          "ensemblId": "ENSG00000129250",
          "biotype": "protein_coding",
          "start": 4997629,
          "end": 5028401,
          "strand": "+",
          "slug": "kif1c"
        },
        {
          "symbol": "SLC52A1",
          "ensemblId": "ENSG00000132517",
          "biotype": "protein_coding",
          "start": 5032600,
          "end": 5052009,
          "strand": "-",
          "slug": "slc52a1"
        },
        {
          "symbol": "ZFP3",
          "ensemblId": "ENSG00000180787",
          "biotype": "protein_coding",
          "start": 5078241,
          "end": 5096376,
          "strand": "+",
          "slug": "zfp3"
        },
        {
          "symbol": "ZNF232",
          "ensemblId": "ENSG00000167840",
          "biotype": "protein_coding",
          "start": 5105269,
          "end": 5123162,
          "strand": "-",
          "slug": "znf232"
        },
        {
          "symbol": "USP6",
          "ensemblId": "ENSG00000129204",
          "biotype": "protein_coding",
          "start": 5116032,
          "end": 5175034,
          "strand": "+",
          "slug": "usp6"
        },
        {
          "symbol": "ZNF594",
          "ensemblId": "ENSG00000180626",
          "biotype": "protein_coding",
          "start": 5174019,
          "end": 5191907,
          "strand": "-",
          "slug": "znf594"
        },
        {
          "symbol": "SCIMP",
          "ensemblId": "ENSG00000161929",
          "biotype": "protein_coding",
          "start": 5208915,
          "end": 5234869,
          "strand": "-",
          "slug": "scimp"
        },
        {
          "symbol": "RABEP1",
          "ensemblId": "ENSG00000029725",
          "biotype": "protein_coding",
          "start": 5282258,
          "end": 5386871,
          "strand": "+",
          "slug": "rabep1"
        },
        {
          "symbol": "NUP88",
          "ensemblId": "ENSG00000108559",
          "biotype": "protein_coding",
          "start": 5359641,
          "end": 5420164,
          "strand": "-",
          "slug": "nup88"
        },
        {
          "symbol": "RPAIN",
          "ensemblId": "ENSG00000129197",
          "biotype": "protein_coding",
          "start": 5419066,
          "end": 5432888,
          "strand": "+",
          "slug": "rpain"
        },
        {
          "symbol": "DHX33",
          "ensemblId": "ENSG00000005100",
          "biotype": "protein_coding",
          "start": 5440917,
          "end": 5469031,
          "strand": "-",
          "slug": "dhx33"
        },
        {
          "symbol": "DERL2",
          "ensemblId": "ENSG00000072849",
          "biotype": "protein_coding",
          "start": 5471254,
          "end": 5486817,
          "strand": "-",
          "slug": "derl2"
        },
        {
          "symbol": "MIS12",
          "ensemblId": "ENSG00000167842",
          "biotype": "protein_coding",
          "start": 5486285,
          "end": 5492080,
          "strand": "+",
          "slug": "mis12"
        },
        {
          "symbol": "NLRP1",
          "ensemblId": "ENSG00000091592",
          "biotype": "protein_coding",
          "start": 5499415,
          "end": 5619424,
          "strand": "-",
          "slug": "nlrp1"
        },
        {
          "symbol": "SMIM48",
          "ensemblId": "ENSG00000286190",
          "biotype": "protein_coding",
          "start": 5499427,
          "end": 5501013,
          "strand": "-",
          "slug": "smim48"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285471",
          "biotype": "protein_coding",
          "start": 5772926,
          "end": 6080792,
          "strand": "+"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primary Mitochondrial Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0000732",
            "name": "Combined Oxidative Phosphorylation Deficiency",
            "genes": 48,
            "inheritance": null,
            "description": "Disorders, usually caused by nuclear genes involved in mitochondrial protein production, that reduce several respiratory chain complexes at once and often cause severe multisystem disease in childhood.",
            "management": "Knowing can end a diagnostic search and guide surveillance and supportive care.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "cerebral-edema",
        "name": "Brain swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-edema"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "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": "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": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "eeg-with-burst-suppression",
        "name": "EEG with burst suppression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-with-burst-suppression"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "progressive-external-ophthalmoplegia",
        "name": "Progressive external ophthalmoplegia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-external-ophthalmoplegia"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      }
    ],
    "related": [
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aars2"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aifm1"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp5f1e"
      },
      {
        "slug": "atp5po",
        "symbol": "ATP5PO",
        "name": "ATP synthase peripheral stalk subunit OSCP",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp5po"
      },
      {
        "slug": "c2orf69",
        "symbol": "C2orf69",
        "name": "chromosome 2 open reading frame 69",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/c2orf69"
      },
      {
        "slug": "cars2",
        "symbol": "CARS2",
        "name": "cysteinyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cars2"
      },
      {
        "slug": "crls1",
        "symbol": "CRLS1",
        "name": "cardiolipin synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/crls1"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ears2"
      },
      {
        "slug": "elac2",
        "symbol": "ELAC2",
        "name": "elaC ribonuclease Z 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/elac2"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fars2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}