{
  "url": "https://dantelabs.com/lt/genes/pcca",
  "gene": {
    "slug": "pcca",
    "symbol": "PCCA",
    "name": "propionyl-CoA carboxylase subunit alpha",
    "hgnc": "HGNC:8653",
    "summary": null,
    "location": "13q32.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000175198",
    "entrezId": 5095,
    "omim": [
      "232000"
    ],
    "uniprot": [
      "P05165"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 100089093,
      "end": 100530435,
      "strand": "+",
      "ensemblTranscript": "ENST00000376285.6",
      "refseqTranscript": "NM_000282.4",
      "ensemblProtein": "ENSP00000365462.1",
      "refseqProtein": "NP_000273.2",
      "exons": [
        {
          "start": 100089093,
          "end": 100089225
        },
        {
          "start": 100102883,
          "end": 100102960
        },
        {
          "start": 100111841,
          "end": 100111888
        },
        {
          "start": 100111993,
          "end": 100112061
        },
        {
          "start": 100154979,
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        },
        {
          "start": 100157287,
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        },
        {
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        },
        {
          "start": 100235842,
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        },
        {
          "start": 100257595,
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        },
        {
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        },
        {
          "start": 100268689,
          "end": 100268783
        },
        {
          "start": 100273196,
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        },
        {
          "start": 100301460,
          "end": 100301603
        },
        {
          "start": 100302924,
          "end": 100302998
        },
        {
          "start": 100307192,
          "end": 100307260
        },
        {
          "start": 100309833,
          "end": 100309908
        },
        {
          "start": 100330561,
          "end": 100330671
        },
        {
          "start": 100340157,
          "end": 100340259
        },
        {
          "start": 100368472,
          "end": 100368574
        },
        {
          "start": 100425633,
          "end": 100425731
        },
        {
          "start": 100449252,
          "end": 100449305
        },
        {
          "start": 100515427,
          "end": 100515567
        },
        {
          "start": 100527675,
          "end": 100527752
        },
        {
          "start": 100530098,
          "end": 100530435
        }
      ],
      "cds": {
        "start": 100089121,
        "end": 100530166
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 100741269,
      "end": 101182686,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 99647750,
      "end": 100971778,
      "genes": [
        {
          "symbol": "CLYBL",
          "ensemblId": "ENSG00000125246",
          "biotype": "protein_coding",
          "start": 99606631,
          "end": 99909459,
          "strand": "+",
          "slug": "clybl"
        },
        {
          "symbol": "ZIC5",
          "ensemblId": "ENSG00000139800",
          "biotype": "protein_coding",
          "start": 99962964,
          "end": 99971767,
          "strand": "-",
          "slug": "zic5"
        },
        {
          "symbol": "ZIC2",
          "ensemblId": "ENSG00000043355",
          "biotype": "protein_coding",
          "start": 99981266,
          "end": 99986765,
          "strand": "+",
          "slug": "zic2"
        },
        {
          "symbol": "GGACT",
          "ensemblId": "ENSG00000134864",
          "biotype": "protein_coding",
          "start": 100525258,
          "end": 100589528,
          "strand": "-",
          "slug": "ggact"
        },
        {
          "symbol": "TMTC4",
          "ensemblId": "ENSG00000125247",
          "biotype": "protein_coding",
          "start": 100603625,
          "end": 100675633,
          "strand": "-",
          "slug": "tmtc4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "methylmalonic-and-propionic-acidemia",
        "name": "Metilmalonová a propionová acidémia",
        "diseases": [
          {
            "mondoId": "MONDO:0011628",
            "name": "Propionová acidémia",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "Spôsobená variantmi v génoch PCCA alebo PCCB, ktoré môžu spôsobiť metabolické krízy so zvýšeným amoniakom, ako aj komplikácie srdca a vývinu.",
            "management": "Poznanie umožňuje diétu s obmedzením bielkovín, karnitín a plány núdzovej starostlivosti a sledovanie srdcových komplikácií.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/methylmalonic-and-propionic-acidemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormality-of-immune-system-physiology",
        "name": "Abnormality of immune system physiology",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-immune-system-physiology"
      },
      {
        "slug": "acute-encephalopathy",
        "name": "Acute encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/acute-encephalopathy"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "cerebellar-hemorrhage",
        "name": "Cerebellar hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-hemorrhage"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "hyperglycinemia",
        "name": "Elevated blood glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperglycinemia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "hyperglycinuria",
        "name": "High urine glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hyperglycinuria"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "increased-level-of-hippuric-acid-in-urine",
        "name": "Increased level of hippuric acid in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-level-of-hippuric-acid-in-urine"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "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": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "organic-aciduria",
        "name": "Organic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/organic-aciduria"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "pancreatitis",
        "name": "Pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/pancreatitis"
      },
      {
        "slug": "poor-appetite",
        "name": "Poor appetite",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/poor-appetite"
      },
      {
        "slug": "propionyl-coa-carboxylase-deficiency",
        "name": "Propionyl-CoA carboxylase deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/propionyl-coa-carboxylase-deficiency"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "pccb",
        "symbol": "PCCB",
        "name": "propionyl-CoA carboxylase subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/pccb"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}