{
  "url": "https://dantelabs.com/tr/genes/slc52a3",
  "gene": {
    "slug": "slc52a3",
    "symbol": "SLC52A3",
    "name": "solute carrier family 52 member 3",
    "hgnc": "HGNC:16187",
    "summary": null,
    "location": "20p13",
    "locusType": "gene with protein product",
    "aliases": [
      "bA371L19.1",
      "hRFT2",
      "RFVT3",
      "RFT2"
    ],
    "previousSymbols": [
      "C20orf54"
    ],
    "ensemblId": "ENSG00000101276",
    "entrezId": 113278,
    "omim": [
      "613350"
    ],
    "uniprot": [
      "Q9NQ40"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 760080,
      "end": 768500,
      "strand": "-",
      "ensemblTranscript": "ENST00000645534.1",
      "refseqTranscript": "NM_033409.4",
      "ensemblProtein": "ENSP00000494193.1",
      "refseqProtein": "NP_212134.3",
      "exons": [
        {
          "start": 760080,
          "end": 761238
        },
        {
          "start": 761701,
          "end": 761824
        },
        {
          "start": 763498,
          "end": 764003
        },
        {
          "start": 765208,
          "end": 765825
        },
        {
          "start": 768297,
          "end": 768500
        }
      ],
      "cds": {
        "start": 761026,
        "end": 765774
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 740724,
      "end": 749131,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 264290,
      "end": 1264289,
      "genes": [
        {
          "symbol": "C20orf96",
          "ensemblId": "ENSG00000196476",
          "biotype": "protein_coding",
          "start": 270863,
          "end": 290778,
          "strand": "-",
          "slug": "c20orf96"
        },
        {
          "symbol": "ZCCHC3",
          "ensemblId": "ENSG00000247315",
          "biotype": "protein_coding",
          "start": 297570,
          "end": 300321,
          "strand": "+",
          "slug": "zcchc3"
        },
        {
          "symbol": "SOX12",
          "ensemblId": "ENSG00000177732",
          "biotype": "protein_coding",
          "start": 325552,
          "end": 330224,
          "strand": "+",
          "slug": "sox12"
        },
        {
          "symbol": "NRSN2",
          "ensemblId": "ENSG00000125841",
          "biotype": "protein_coding",
          "start": 346695,
          "end": 359706,
          "strand": "+",
          "slug": "nrsn2"
        },
        {
          "symbol": "TRIB3",
          "ensemblId": "ENSG00000101255",
          "biotype": "protein_coding",
          "start": 362835,
          "end": 398964,
          "strand": "+",
          "slug": "trib3"
        },
        {
          "symbol": "RBCK1",
          "ensemblId": "ENSG00000125826",
          "biotype": "protein_coding",
          "start": 407393,
          "end": 432139,
          "strand": "+",
          "slug": "rbck1"
        },
        {
          "symbol": "TBC1D20",
          "ensemblId": "ENSG00000125875",
          "biotype": "protein_coding",
          "start": 423596,
          "end": 462566,
          "strand": "-",
          "slug": "tbc1d20"
        },
        {
          "symbol": "CSNK2A1",
          "ensemblId": "ENSG00000101266",
          "biotype": "protein_coding",
          "start": 472498,
          "end": 543835,
          "strand": "-",
          "slug": "csnk2a1"
        },
        {
          "symbol": "TCF15",
          "ensemblId": "ENSG00000125878",
          "biotype": "protein_coding",
          "start": 603801,
          "end": 610316,
          "strand": "-",
          "slug": "tcf15"
        },
        {
          "symbol": "SRXN1",
          "ensemblId": "ENSG00000271303",
          "biotype": "protein_coding",
          "start": 646614,
          "end": 653404,
          "strand": "-",
          "slug": "srxn1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000270299",
          "biotype": "protein_coding",
          "start": 646626,
          "end": 675800,
          "strand": "-"
        },
        {
          "symbol": "SCRT2",
          "ensemblId": "ENSG00000215397",
          "biotype": "protein_coding",
          "start": 661596,
          "end": 675802,
          "strand": "-",
          "slug": "scrt2"
        },
        {
          "symbol": "FAM110A",
          "ensemblId": "ENSG00000125898",
          "biotype": "protein_coding",
          "start": 833707,
          "end": 857463,
          "strand": "+",
          "slug": "fam110a"
        },
        {
          "symbol": "ANGPT4",
          "ensemblId": "ENSG00000101280",
          "biotype": "protein_coding",
          "start": 869900,
          "end": 916335,
          "strand": "-",
          "slug": "angpt4"
        },
        {
          "symbol": "RSPO4",
          "ensemblId": "ENSG00000101282",
          "biotype": "protein_coding",
          "start": 958452,
          "end": 1002510,
          "strand": "-",
          "slug": "rspo4"
        },
        {
          "symbol": "PSMF1",
          "ensemblId": "ENSG00000125818",
          "biotype": "protein_coding",
          "start": 1113240,
          "end": 1192353,
          "strand": "+",
          "slug": "psmf1"
        },
        {
          "symbol": "TMEM74B",
          "ensemblId": "ENSG00000125895",
          "biotype": "protein_coding",
          "start": 1178989,
          "end": 1186842,
          "strand": "-",
          "slug": "tmem74b"
        },
        {
          "symbol": "C20orf202",
          "ensemblId": "ENSG00000215595",
          "biotype": "protein_coding",
          "start": 1203454,
          "end": 1209076,
          "strand": "+",
          "slug": "c20orf202"
        },
        {
          "symbol": "RAD21L1",
          "ensemblId": "ENSG00000244588",
          "biotype": "protein_coding",
          "start": 1226027,
          "end": 1296421,
          "strand": "+",
          "slug": "rad21l1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "riboflavin-transporter-deficiency",
        "name": "Riboflavin Taşıyıcı Eksikliği",
        "diseases": [
          {
            "mondoId": "MONDO:0008891",
            "name": "Riboflavin Taşıyıcı Eksikliği",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "SLC52A2 veya SLC52A3 genlerindeki biallelik varyantlardan kaynaklanan, sensörinöral işitme kaybı, bulbar paralizi, optik atrofi ve solunum zayıflığı ile seyreden bir nöronopati.",
            "management": "Yüksek doz oral riboflavin, özellikle erken başlandığında sonuçları iyileştirebilir.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/riboflavin-transporter-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ankle-clonus",
        "name": "Abnormal rhythmic movements of ankle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ankle-clonus"
      },
      {
        "slug": "gait-imbalance",
        "name": "Abnormality of balance",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-imbalance"
      },
      {
        "slug": "abnormal-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "bulbar-palsy",
        "name": "Bulbar palsy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bulbar-palsy"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "cranial-nerve-motor-loss",
        "name": "Cranial nerve motor loss",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cranial-nerve-motor-loss"
      },
      {
        "slug": "cranial-nerve-paralysis",
        "name": "Cranial nerve paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cranial-nerve-paralysis"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "facial-diplegia",
        "name": "Facial diplegia",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/facial-diplegia"
      },
      {
        "slug": "generalized-hyperreflexia",
        "name": "Generalized hyperreflexia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hyperreflexia"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "hand-muscle-atrophy",
        "name": "Hand muscle degeneration",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hand-muscle-atrophy"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "vocal-cord-paralysis",
        "name": "Inability to move vocal cords",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/vocal-cord-paralysis"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "truncal-ataxia",
        "name": "Instability or lack of coordination of central trunk muscles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/truncal-ataxia"
      },
      {
        "slug": "knee-clonus",
        "name": "Knee clonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/knee-clonus"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "myopathic-facies",
        "name": "Myopathic facies",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/myopathic-facies"
      },
      {
        "slug": "neck-muscle-weakness",
        "name": "Neck muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/neck-muscle-weakness"
      },
      {
        "slug": "nocturnal-hypoventilation",
        "name": "Nocturnal hypoventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/nocturnal-hypoventilation"
      },
      {
        "slug": "stridor",
        "name": "Noisy breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stridor"
      },
      {
        "slug": "external-ophthalmoplegia",
        "name": "Paralysis or weakness of muscles within or surrounding outer part of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/external-ophthalmoplegia"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "progressive-inspiratory-stridor",
        "name": "Progressive inspiratory stridor",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-inspiratory-stridor"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "respiratory-failure-requiring-assisted-ventilation",
        "name": "Respiratory failure requiring assisted ventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "tongue-fasciculations",
        "name": "Tongue twitching",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tongue-fasciculations"
      },
      {
        "slug": "tongue-atrophy",
        "name": "Wasting of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tongue-atrophy"
      },
      {
        "slug": "diaphragmatic-weakness",
        "name": "Weak diaphragm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/diaphragmatic-weakness"
      },
      {
        "slug": "weak-voice",
        "name": "Weak voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/weak-voice"
      }
    ],
    "related": [
      {
        "slug": "slc52a2",
        "symbol": "SLC52A2",
        "name": "solute carrier family 52 member 2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/slc52a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}