{
  "url": "https://dantelabs.com/nl/genes/slc25a38",
  "gene": {
    "slug": "slc25a38",
    "symbol": "SLC25A38",
    "name": "solute carrier family 25 member 38",
    "hgnc": "HGNC:26054",
    "summary": null,
    "location": "3p22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ20551"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000144659",
    "entrezId": 54977,
    "omim": [
      "610819"
    ],
    "uniprot": [
      "Q96DW6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 39383370,
      "end": 39397351,
      "strand": "+",
      "ensemblTranscript": "ENST00000650617.1",
      "refseqTranscript": "NM_017875.4",
      "ensemblProtein": "ENSP00000497532.1",
      "refseqProtein": "NP_060345.2",
      "exons": [
        {
          "start": 39383370,
          "end": 39383793
        },
        {
          "start": 39389495,
          "end": 39389616
        },
        {
          "start": 39390423,
          "end": 39390507
        },
        {
          "start": 39391441,
          "end": 39391620
        },
        {
          "start": 39391853,
          "end": 39392021
        },
        {
          "start": 39394410,
          "end": 39394576
        },
        {
          "start": 39396398,
          "end": 39397351
        }
      ],
      "cds": {
        "start": 39383725,
        "end": 39396520
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 39424839,
      "end": 39438842,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 38890361,
      "end": 39890360,
      "genes": [
        {
          "symbol": "SCN11A",
          "ensemblId": "ENSG00000168356",
          "biotype": "protein_coding",
          "start": 38845758,
          "end": 39052157,
          "strand": "-",
          "slug": "scn11a"
        },
        {
          "symbol": "WDR48",
          "ensemblId": "ENSG00000114742",
          "biotype": "protein_coding",
          "start": 39051991,
          "end": 39096671,
          "strand": "+",
          "slug": "wdr48"
        },
        {
          "symbol": "GORASP1",
          "ensemblId": "ENSG00000114745",
          "biotype": "protein_coding",
          "start": 39095222,
          "end": 39108369,
          "strand": "-",
          "slug": "gorasp1"
        },
        {
          "symbol": "TTC21A",
          "ensemblId": "ENSG00000168026",
          "biotype": "protein_coding",
          "start": 39107194,
          "end": 39140973,
          "strand": "+",
          "slug": "ttc21a"
        },
        {
          "symbol": "CSRNP1",
          "ensemblId": "ENSG00000144655",
          "biotype": "protein_coding",
          "start": 39141854,
          "end": 39154852,
          "strand": "-",
          "slug": "csrnp1"
        },
        {
          "symbol": "XIRP1",
          "ensemblId": "ENSG00000168334",
          "biotype": "protein_coding",
          "start": 39183210,
          "end": 39192660,
          "strand": "-",
          "slug": "xirp1"
        },
        {
          "symbol": "CX3CR1",
          "ensemblId": "ENSG00000168329",
          "biotype": "protein_coding",
          "start": 39263495,
          "end": 39281735,
          "strand": "-",
          "slug": "cx3cr1"
        },
        {
          "symbol": "CCR8",
          "ensemblId": "ENSG00000179934",
          "biotype": "protein_coding",
          "start": 39329709,
          "end": 39336269,
          "strand": "+",
          "slug": "ccr8"
        },
        {
          "symbol": "RPSA",
          "ensemblId": "ENSG00000168028",
          "biotype": "protein_coding",
          "start": 39406709,
          "end": 39426255,
          "strand": "+",
          "slug": "rpsa"
        },
        {
          "symbol": "MOBP",
          "ensemblId": "ENSG00000168314",
          "biotype": "protein_coding",
          "start": 39467172,
          "end": 39529479,
          "strand": "+",
          "slug": "mobp"
        },
        {
          "symbol": "MYRIP",
          "ensemblId": "ENSG00000170011",
          "biotype": "protein_coding",
          "start": 39808914,
          "end": 40260321,
          "strand": "+",
          "slug": "myrip"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-sideroblastic-anaemias",
        "name": "Erfelijke sideroblastische anemieën",
        "diseases": [
          {
            "mondoId": "MONDO:0020099",
            "name": "Erfelijke sideroblastische anemie",
            "genes": 8,
            "inheritance": null,
            "description": "Een groep aandoeningen veroorzaakt door veranderingen in genen zoals ALAS2 en ABCB7 (X-gebonden), SLC25A38, GLRX5, PUS1, YARS2 en TRNT1 (recessief) en HSPA9 (dominant); sommige vormen treffen ook de spieren, het zenuwstelsel of het immuunsysteem.",
            "management": "De X-gebonden ALAS2-vorm reageert vaak op vitamine B6 (pyridoxine), en een diagnose helpt bij het bewaken van de ijzerstapeling en onderscheidt deze aandoeningen van verworven myelodysplastisch syndroom.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/hereditary-sideroblastic-anaemias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-mean-corpuscular-volume",
        "name": "Decreased mean corpuscular volume",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-mean-corpuscular-volume"
      },
      {
        "slug": "increased-circulating-ferritin-concentration",
        "name": "Elevated serum ferritin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration"
      },
      {
        "slug": "elevated-transferrin-saturation",
        "name": "Elevated transferrin saturation",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-transferrin-saturation"
      },
      {
        "slug": "hypochromia",
        "name": "Hypochromia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/hypochromia"
      },
      {
        "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": "sideroblastic-anemia",
        "name": "Sideroblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/sideroblastic-anemia"
      }
    ],
    "related": [
      {
        "slug": "abcb7",
        "symbol": "ABCB7",
        "name": "ATP binding cassette subfamily B member 7",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/abcb7"
      },
      {
        "slug": "alas2",
        "symbol": "ALAS2",
        "name": "5'-aminolevulinate synthase 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alas2"
      },
      {
        "slug": "glrx5",
        "symbol": "GLRX5",
        "name": "glutaredoxin 5",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/glrx5"
      },
      {
        "slug": "hspa9",
        "symbol": "HSPA9",
        "name": "heat shock protein family A (Hsp70) member 9",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/hspa9"
      },
      {
        "slug": "pus1",
        "symbol": "PUS1",
        "name": "pseudouridine synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/pus1"
      },
      {
        "slug": "trnt1",
        "symbol": "TRNT1",
        "name": "tRNA nucleotidyl transferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/trnt1"
      },
      {
        "slug": "yars2",
        "symbol": "YARS2",
        "name": "tyrosyl-tRNA synthetase 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/yars2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}