{
  "url": "https://dantelabs.com/pl/genes/mrpl44",
  "gene": {
    "slug": "mrpl44",
    "symbol": "MRPL44",
    "name": "mitochondrial ribosomal protein L44",
    "hgnc": "HGNC:16650",
    "summary": null,
    "location": "2q36.1",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ12701",
      "FLJ13990",
      "mL44"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000135900",
    "entrezId": 65080,
    "omim": [
      "611849"
    ],
    "uniprot": [
      "Q9H9J2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 223957463,
      "end": 223967714,
      "strand": "+",
      "ensemblTranscript": "ENST00000258383.4",
      "refseqTranscript": "NM_022915.5",
      "ensemblProtein": "ENSP00000258383.3",
      "refseqProtein": "NP_075066.1",
      "exons": [
        {
          "start": 223957463,
          "end": 223957651
        },
        {
          "start": 223959534,
          "end": 223960002
        },
        {
          "start": 223963756,
          "end": 223963934
        },
        {
          "start": 223966863,
          "end": 223967714
        }
      ],
      "cds": {
        "start": 223957473,
        "end": 223967034
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 224822121,
      "end": 224832431,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 223462589,
      "end": 224462588,
      "genes": [
        {
          "symbol": "SCG2",
          "ensemblId": "ENSG00000171951",
          "biotype": "protein_coding",
          "start": 223596092,
          "end": 223602773,
          "strand": "-",
          "slug": "scg2"
        },
        {
          "symbol": "AP1S3",
          "ensemblId": "ENSG00000152056",
          "biotype": "protein_coding",
          "start": 223667680,
          "end": 223838027,
          "strand": "-",
          "slug": "ap1s3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286239",
          "biotype": "protein_coding",
          "start": 223757258,
          "end": 223945299,
          "strand": "-"
        },
        {
          "symbol": "WDFY1",
          "ensemblId": "ENSG00000085449",
          "biotype": "protein_coding",
          "start": 223855716,
          "end": 223945357,
          "strand": "-",
          "slug": "wdfy1"
        },
        {
          "symbol": "SERPINE2",
          "ensemblId": "ENSG00000135919",
          "biotype": "protein_coding",
          "start": 223975045,
          "end": 224039688,
          "strand": "-",
          "slug": "serpine2"
        },
        {
          "symbol": "FAM124B",
          "ensemblId": "ENSG00000124019",
          "biotype": "protein_coding",
          "start": 224376339,
          "end": 224402113,
          "strand": "-",
          "slug": "fam124b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Pierwotna choroba mitochondrialna",
        "diseases": [
          {
            "mondoId": "MONDO:0000732",
            "name": "Złożony niedobór fosforylacji oksydacyjnej",
            "genes": 48,
            "inheritance": null,
            "description": "Schorzenia, zwykle spowodowane genami jądrowymi zaangażowanymi w produkcję białek mitochondrialnych, które obniżają jednocześnie kilka kompleksów łańcucha oddechowego i często powodują ciężką chorobę wielonarządową w dzieciństwie.",
            "management": "Poznanie wyniku może zakończyć poszukiwanie diagnozy i pomóc w monitorowaniu oraz opiece wspomagającej.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cytochrome-c-oxidase-negative-muscle-fibers",
        "name": "Cytochrome C oxidase-negative muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cytochrome-c-oxidase-negative-muscle-fibers"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "microvesicular-hepatic-steatosis",
        "name": "Microvesicular hepatic steatosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microvesicular-hepatic-steatosis"
      }
    ],
    "related": [
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/aars2"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/aifm1"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/atp5f1e"
      },
      {
        "slug": "atp5po",
        "symbol": "ATP5PO",
        "name": "ATP synthase peripheral stalk subunit OSCP",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/atp5po"
      },
      {
        "slug": "c1qbp",
        "symbol": "C1QBP",
        "name": "complement C1q binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/c1qbp"
      },
      {
        "slug": "c2orf69",
        "symbol": "C2orf69",
        "name": "chromosome 2 open reading frame 69",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/c2orf69"
      },
      {
        "slug": "cars2",
        "symbol": "CARS2",
        "name": "cysteinyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cars2"
      },
      {
        "slug": "crls1",
        "symbol": "CRLS1",
        "name": "cardiolipin synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/crls1"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ears2"
      },
      {
        "slug": "elac2",
        "symbol": "ELAC2",
        "name": "elaC ribonuclease Z 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/elac2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}