{
  "url": "https://dantelabs.com/el/genes/acsf3",
  "gene": {
    "slug": "acsf3",
    "symbol": "ACSF3",
    "name": "acyl-CoA synthetase family member 3",
    "hgnc": "HGNC:27288",
    "summary": null,
    "location": "16q24.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000176715",
    "entrezId": 197322,
    "omim": [
      "614245"
    ],
    "uniprot": [
      "Q4G176"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 89093852,
      "end": 89156233,
      "strand": "+",
      "ensemblTranscript": "ENST00000614302.5",
      "refseqTranscript": "NM_001243279.3",
      "ensemblProtein": "ENSP00000479130.1",
      "refseqProtein": "NP_001230208.1",
      "exons": [
        {
          "start": 89093852,
          "end": 89093996
        },
        {
          "start": 89098591,
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        },
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        },
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        },
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        }
      ],
      "cds": {
        "start": 89100682,
        "end": 89154207
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 89154783,
      "end": 89222254,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 88625043,
      "end": 89625042,
      "genes": [
        {
          "symbol": "ZC3H18",
          "ensemblId": "ENSG00000158545",
          "biotype": "protein_coding",
          "start": 88570388,
          "end": 88631966,
          "strand": "+",
          "slug": "zc3h18"
        },
        {
          "symbol": "IL17C",
          "ensemblId": "ENSG00000124391",
          "biotype": "protein_coding",
          "start": 88638571,
          "end": 88640468,
          "strand": "+",
          "slug": "il17c"
        },
        {
          "symbol": "CYBA",
          "ensemblId": "ENSG00000051523",
          "biotype": "protein_coding",
          "start": 88643275,
          "end": 88651083,
          "strand": "-",
          "slug": "cyba"
        },
        {
          "symbol": "MVD",
          "ensemblId": "ENSG00000167508",
          "biotype": "protein_coding",
          "start": 88651934,
          "end": 88663166,
          "strand": "-",
          "slug": "mvd"
        },
        {
          "symbol": "SNAI3",
          "ensemblId": "ENSG00000185669",
          "biotype": "protein_coding",
          "start": 88674992,
          "end": 88686513,
          "strand": "-",
          "slug": "snai3"
        },
        {
          "symbol": "RNF166",
          "ensemblId": "ENSG00000158717",
          "biotype": "protein_coding",
          "start": 88696494,
          "end": 88706424,
          "strand": "-",
          "slug": "rnf166"
        },
        {
          "symbol": "CTU2",
          "ensemblId": "ENSG00000174177",
          "biotype": "protein_coding",
          "start": 88706470,
          "end": 88717853,
          "strand": "+",
          "slug": "ctu2"
        },
        {
          "symbol": "PIEZO1",
          "ensemblId": "ENSG00000103335",
          "biotype": "protein_coding",
          "start": 88715338,
          "end": 88785251,
          "strand": "-",
          "slug": "piezo1"
        },
        {
          "symbol": "CDT1",
          "ensemblId": "ENSG00000167513",
          "biotype": "protein_coding",
          "start": 88803777,
          "end": 88809258,
          "strand": "+",
          "slug": "cdt1"
        },
        {
          "symbol": "APRT",
          "ensemblId": "ENSG00000198931",
          "biotype": "protein_coding",
          "start": 88808323,
          "end": 88811970,
          "strand": "-",
          "slug": "aprt"
        },
        {
          "symbol": "GALNS",
          "ensemblId": "ENSG00000141012",
          "biotype": "protein_coding",
          "start": 88813733,
          "end": 88857832,
          "strand": "-",
          "slug": "galns"
        },
        {
          "symbol": "TRAPPC2L",
          "ensemblId": "ENSG00000167515",
          "biotype": "protein_coding",
          "start": 88856220,
          "end": 88862686,
          "strand": "+",
          "slug": "trappc2l"
        },
        {
          "symbol": "PABPN1L",
          "ensemblId": "ENSG00000205022",
          "biotype": "protein_coding",
          "start": 88863333,
          "end": 88866660,
          "strand": "-",
          "slug": "pabpn1l"
        },
        {
          "symbol": "CBFA2T3",
          "ensemblId": "ENSG00000129993",
          "biotype": "protein_coding",
          "start": 88874858,
          "end": 88977207,
          "strand": "-",
          "slug": "cbfa2t3"
        },
        {
          "symbol": "CDH15",
          "ensemblId": "ENSG00000129910",
          "biotype": "protein_coding",
          "start": 89171742,
          "end": 89195492,
          "strand": "+",
          "slug": "cdh15"
        },
        {
          "symbol": "SLC22A31",
          "ensemblId": "ENSG00000259803",
          "biotype": "protein_coding",
          "start": 89195458,
          "end": 89201692,
          "strand": "-",
          "slug": "slc22a31"
        },
        {
          "symbol": "ZNF778",
          "ensemblId": "ENSG00000170100",
          "biotype": "protein_coding",
          "start": 89217683,
          "end": 89237141,
          "strand": "+",
          "slug": "znf778"
        },
        {
          "symbol": "ANKRD11",
          "ensemblId": "ENSG00000167522",
          "biotype": "protein_coding",
          "start": 89267619,
          "end": 89490706,
          "strand": "-",
          "slug": "ankrd11"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288715",
          "biotype": "protein_coding",
          "start": 89317046,
          "end": 89418292,
          "strand": "-"
        },
        {
          "symbol": "SPG7",
          "ensemblId": "ENSG00000197912",
          "biotype": "protein_coding",
          "start": 89490719,
          "end": 89557768,
          "strand": "+",
          "slug": "spg7"
        },
        {
          "symbol": "RPL13",
          "ensemblId": "ENSG00000167526",
          "biotype": "protein_coding",
          "start": 89560637,
          "end": 89567834,
          "strand": "+",
          "slug": "rpl13"
        },
        {
          "symbol": "CPNE7",
          "ensemblId": "ENSG00000178773",
          "biotype": "protein_coding",
          "start": 89575730,
          "end": 89597247,
          "strand": "+",
          "slug": "cpne7"
        },
        {
          "symbol": "DPEP1",
          "ensemblId": "ENSG00000015413",
          "biotype": "protein_coding",
          "start": 89613308,
          "end": 89638456,
          "strand": "+",
          "slug": "dpep1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "methylmalonic-and-propionic-acidemia",
        "name": "Μεθυλμαλονική και Προπιονική Acidemia",
        "diseases": [
          {
            "mondoId": "MONDO:0002012",
            "name": "Μεθυλμαλονική Acidemia",
            "genes": 12,
            "inheritance": "autosomal-recessive",
            "description": "Προκαλείται από παραλλαγές στα MMUT, MMAA, MMAB, MCEE και σε συναφή γονίδια επεξεργασίας κοβαλαμίνης, οι οποίες μπορεί να προκαλέσουν εμέτους, κακή σίτιση, μεταβολικές κρίσεις, αναπτυξιακά προβλήματα και νεφρική νόσο.",
            "management": "Η γνώση επιτρέπει εξειδικευμένη διαιτητική διαχείριση, χορήγηση καρνιτίνης, βιταμίνης B12 για τις μορφές που ανταποκρίνονται και σχέδιο έκτακτης ανάγκης, γεγονός που μειώνει τον κίνδυνο κρίσεων.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/methylmalonic-and-propionic-acidemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "acidosis",
        "name": "Acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acidosis"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "dicarboxylic-acidemia",
        "name": "Dicarboxylic acidemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dicarboxylic-acidemia"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-urinary-dicarboxylic-acid-level",
        "name": "Elevated urinary dicarboxylic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-dicarboxylic-acid-level"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "focal-impaired-awareness-seizure",
        "name": "Focal impaired awareness seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure"
      },
      {
        "slug": "generalized-clonic-seizure",
        "name": "Generalized clonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-clonic-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "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": "impaired-continence",
        "name": "Impaired continence",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-continence"
      },
      {
        "slug": "intermittent-diarrhea",
        "name": "Intermittent diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intermittent-diarrhea"
      },
      {
        "slug": "ketoacidosis",
        "name": "Ketoacidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ketoacidosis"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "methylmalonic-acidemia",
        "name": "Methylmalonic acidemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/methylmalonic-acidemia"
      },
      {
        "slug": "methylmalonic-aciduria",
        "name": "Methylmalonic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/methylmalonic-aciduria"
      },
      {
        "slug": "migraine",
        "name": "Migraine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/migraine"
      },
      {
        "slug": "nasogastric-tube-feeding",
        "name": "Nasogastric tube feeding",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nasogastric-tube-feeding"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "abcd4",
        "symbol": "ABCD4",
        "name": "ATP binding cassette subfamily D member 4",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/abcd4"
      },
      {
        "slug": "cd320",
        "symbol": "CD320",
        "name": "CD320 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cd320"
      },
      {
        "slug": "hcfc1",
        "symbol": "HCFC1",
        "name": "host cell factor C1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/hcfc1"
      },
      {
        "slug": "lmbrd1",
        "symbol": "LMBRD1",
        "name": "LMBR1 domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/lmbrd1"
      },
      {
        "slug": "mcee",
        "symbol": "MCEE",
        "name": "methylmalonyl-CoA epimerase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mcee"
      },
      {
        "slug": "mmaa",
        "symbol": "MMAA",
        "name": "metabolism of cobalamin associated A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mmaa"
      },
      {
        "slug": "mmab",
        "symbol": "MMAB",
        "name": "metabolism of cobalamin associated B",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mmab"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "name": "metabolism of cobalamin associated C",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mmachc"
      },
      {
        "slug": "mmadhc",
        "symbol": "MMADHC",
        "name": "metabolism of cobalamin associated D",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mmadhc"
      },
      {
        "slug": "mmut",
        "symbol": "MMUT",
        "name": "methylmalonyl-CoA mutase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mmut"
      },
      {
        "slug": "prdx1",
        "symbol": "PRDX1",
        "name": "peroxiredoxin 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/prdx1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}