{
  "url": "https://dantelabs.com/pt/genes/slc46a1",
  "gene": {
    "slug": "slc46a1",
    "symbol": "SLC46A1",
    "name": "solute carrier family 46 member 1",
    "hgnc": "HGNC:30521",
    "summary": null,
    "location": "17q11.2",
    "locusType": "gene with protein product",
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      "HCP1",
      "MGC9564",
      "PCFT",
      "HsPCFT",
      "hPCFT"
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    "previousSymbols": [],
    "ensemblId": "ENSG00000076351",
    "entrezId": 113235,
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      "611672"
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    "uniprot": [
      "Q96NT5"
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      "ensemblProtein": "ENSP00000480703.1",
      "refseqProtein": "NP_542400.2",
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    },
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      "build": "GRCh37",
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      "end": 26734215,
      "strand": "-"
    },
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        {
          "symbol": "TMEM97",
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        {
          "symbol": "IFT20",
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          "end": 28335489,
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        {
          "symbol": "TNFAIP1",
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          "strand": "+",
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        },
        {
          "symbol": "POLDIP2",
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        {
          "symbol": "VMA12",
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        },
        {
          "symbol": "SEBOX",
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          "slug": "sebox"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000273171",
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          "end": 28368012,
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        },
        {
          "symbol": "SARM1",
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          "strand": "+",
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        },
        {
          "symbol": "VTN",
          "ensemblId": "ENSG00000109072",
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          "strand": "-",
          "slug": "vtn"
        },
        {
          "symbol": "RSKR",
          "ensemblId": "ENSG00000167524",
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          "end": 28614210,
          "strand": "-",
          "slug": "rskr"
        },
        {
          "symbol": "SLC13A2",
          "ensemblId": "ENSG00000007216",
          "biotype": "protein_coding",
          "start": 28473275,
          "end": 28497782,
          "strand": "+",
          "slug": "slc13a2"
        },
        {
          "symbol": "FOXN1",
          "ensemblId": "ENSG00000109101",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "UNC119",
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          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "PIGS",
          "ensemblId": "ENSG00000087111",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "pigs"
        },
        {
          "symbol": "ALDOC",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "aldoc"
        },
        {
          "symbol": "SPAG5",
          "ensemblId": "ENSG00000076382",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "spag5"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000258472",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "BLTP2",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "SDF2",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "sdf2"
        },
        {
          "symbol": "SUPT6H",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "supt6h"
        },
        {
          "symbol": "PROCA1",
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          "biotype": "protein_coding",
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          "end": 28712313,
          "strand": "-",
          "slug": "proca1"
        },
        {
          "symbol": "RAB34",
          "ensemblId": "ENSG00000109113",
          "biotype": "protein_coding",
          "start": 28713545,
          "end": 28719594,
          "strand": "-",
          "slug": "rab34"
        },
        {
          "symbol": "RPL23A",
          "ensemblId": "ENSG00000198242",
          "biotype": "protein_coding",
          "start": 28719940,
          "end": 28724365,
          "strand": "+",
          "slug": "rpl23a"
        },
        {
          "symbol": "TLCD1",
          "ensemblId": "ENSG00000160606",
          "biotype": "protein_coding",
          "start": 28723435,
          "end": 28727935,
          "strand": "-",
          "slug": "tlcd1"
        },
        {
          "symbol": "NEK8",
          "ensemblId": "ENSG00000160602",
          "biotype": "protein_coding",
          "start": 28725897,
          "end": 28743455,
          "strand": "+",
          "slug": "nek8"
        },
        {
          "symbol": "TRAF4",
          "ensemblId": "ENSG00000076604",
          "biotype": "protein_coding",
          "start": 28743978,
          "end": 28772894,
          "strand": "+",
          "slug": "traf4"
        },
        {
          "symbol": "FAM222B",
          "ensemblId": "ENSG00000173065",
          "biotype": "protein_coding",
          "start": 28755966,
          "end": 28855232,
          "strand": "-",
          "slug": "fam222b"
        },
        {
          "symbol": "ERAL1",
          "ensemblId": "ENSG00000132591",
          "biotype": "protein_coding",
          "start": 28854983,
          "end": 28861067,
          "strand": "+",
          "slug": "eral1"
        },
        {
          "symbol": "FLOT2",
          "ensemblId": "ENSG00000132589",
          "biotype": "protein_coding",
          "start": 28879335,
          "end": 28897741,
          "strand": "-",
          "slug": "flot2"
        },
        {
          "symbol": "DHRS13",
          "ensemblId": "ENSG00000167536",
          "biotype": "protein_coding",
          "start": 28897781,
          "end": 28903087,
          "strand": "-",
          "slug": "dhrs13"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-folate-malabsorption",
        "name": "Malabsorção Hereditária de Folato",
        "diseases": [
          {
            "mondoId": "MONDO:0009238",
            "name": "Malabsorção Hereditária de Folato",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": null,
            "management": "Ácido folínico ou levofolinato por via intramuscular (parentérica) em dose elevada, para contornar a absorção intestinal, bloqueia ",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/hereditary-folate-malabsorption"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormality-of-the-immune-system",
        "name": "Abnormality of the immune system",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-immune-system"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "basal-ganglia-calcification",
        "name": "Basal ganglia calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/basal-ganglia-calcification"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "dyskinesia",
        "name": "Disorder of involuntary muscle movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "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": "very-frequent",
        "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": "decreased-circulating-folate-concentration",
        "name": "Folate deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-folate-concentration"
      },
      {
        "slug": "folate-responsive-megaloblastic-anemia",
        "name": "Folate-responsive megaloblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/folate-responsive-megaloblastic-anemia"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "increased-total-eosinophil-count",
        "name": "High blood eosinophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-total-eosinophil-count"
      },
      {
        "slug": "impaired-folate-absorption",
        "name": "Impaired folate absorption",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/impaired-folate-absorption"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "cheilitis",
        "name": "Inflammation of the lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cheilitis"
      },
      {
        "slug": "glossitis",
        "name": "Inflammation of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glossitis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/athetosis"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "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": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "megaloblastic-anemia",
        "name": "Megaloblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/megaloblastic-anemia"
      },
      {
        "slug": "oral-ulcer",
        "name": "Mouth sore",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/oral-ulcer"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "nausea-and-vomiting",
        "name": "Nausea and vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nausea-and-vomiting"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}