{
  "url": "https://dantelabs.com/ro/genes/fbxo38",
  "gene": {
    "slug": "fbxo38",
    "symbol": "FBXO38",
    "name": "F-box protein 38",
    "hgnc": "HGNC:28844",
    "summary": null,
    "location": "5q32",
    "locusType": "gene with protein product",
    "aliases": [
      "MOKA",
      "SP329",
      "FLJ13962",
      "Fbx38"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000145868",
    "entrezId": 81545,
    "omim": [
      "608533"
    ],
    "uniprot": [
      "Q6PIJ6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 148383958,
      "end": 148442836,
      "strand": "+",
      "ensemblTranscript": "ENST00000340253.10",
      "refseqTranscript": "NM_205836.3",
      "ensemblProtein": "ENSP00000342023.6",
      "refseqProtein": "NP_995308.1",
      "exons": [
        {
          "start": 148383958,
          "end": 148384039
        },
        {
          "start": 148394714,
          "end": 148394904
        },
        {
          "start": 148398999,
          "end": 148399132
        },
        {
          "start": 148401982,
          "end": 148402145
        },
        {
          "start": 148402348,
          "end": 148402513
        },
        {
          "start": 148404685,
          "end": 148404822
        },
        {
          "start": 148406257,
          "end": 148406394
        },
        {
          "start": 148409124,
          "end": 148409217
        },
        {
          "start": 148410635,
          "end": 148410765
        },
        {
          "start": 148414136,
          "end": 148414306
        },
        {
          "start": 148415928,
          "end": 148416070
        },
        {
          "start": 148416994,
          "end": 148417204
        },
        {
          "start": 148423998,
          "end": 148424117
        },
        {
          "start": 148425522,
          "end": 148425701
        },
        {
          "start": 148427213,
          "end": 148427947
        },
        {
          "start": 148433424,
          "end": 148433524
        },
        {
          "start": 148433635,
          "end": 148433737
        },
        {
          "start": 148438332,
          "end": 148438498
        },
        {
          "start": 148439647,
          "end": 148439792
        },
        {
          "start": 148440424,
          "end": 148440527
        },
        {
          "start": 148441124,
          "end": 148441237
        },
        {
          "start": 148441969,
          "end": 148442836
        }
      ],
      "cds": {
        "start": 148394777,
        "end": 148442147
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 147763498,
      "end": 147822399,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 147913397,
      "end": 148913396,
      "genes": [
        {
          "symbol": "SPINK5",
          "ensemblId": "ENSG00000133710",
          "biotype": "protein_coding",
          "start": 148025683,
          "end": 148141031,
          "strand": "+",
          "slug": "spink5"
        },
        {
          "symbol": "SPINK14",
          "ensemblId": "ENSG00000196800",
          "biotype": "protein_coding",
          "start": 148168546,
          "end": 148175619,
          "strand": "+",
          "slug": "spink14"
        },
        {
          "symbol": "SPINK6",
          "ensemblId": "ENSG00000178172",
          "biotype": "protein_coding",
          "start": 148202794,
          "end": 148215137,
          "strand": "+",
          "slug": "spink6"
        },
        {
          "symbol": "MARCOL",
          "ensemblId": "ENSG00000248109",
          "biotype": "protein_coding",
          "start": 148221650,
          "end": 148243580,
          "strand": "+",
          "slug": "marcol"
        },
        {
          "symbol": "SPINK13",
          "ensemblId": "ENSG00000214510",
          "biotype": "protein_coding",
          "start": 148268180,
          "end": 148286255,
          "strand": "+",
          "slug": "spink13"
        },
        {
          "symbol": "SPINK7",
          "ensemblId": "ENSG00000145879",
          "biotype": "protein_coding",
          "start": 148312419,
          "end": 148315924,
          "strand": "+",
          "slug": "spink7"
        },
        {
          "symbol": "SPINK9",
          "ensemblId": "ENSG00000204909",
          "biotype": "protein_coding",
          "start": 148321203,
          "end": 148339852,
          "strand": "+",
          "slug": "spink9"
        },
        {
          "symbol": "HTR4",
          "ensemblId": "ENSG00000164270",
          "biotype": "protein_coding",
          "start": 148446042,
          "end": 148677235,
          "strand": "-",
          "slug": "htr4"
        },
        {
          "symbol": "ADRB2",
          "ensemblId": "ENSG00000169252",
          "biotype": "protein_coding",
          "start": 148826611,
          "end": 148828623,
          "strand": "+",
          "slug": "adrb2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Boala Charcot-Marie-Tooth",
        "diseases": [
          {
            "mondoId": "MONDO:0018894",
            "name": "Neuropatia motorie ereditară distală",
            "genes": 22,
            "inheritance": null,
            "description": "Neuropatii ereditare care afectează în principal nervii motori, provocând slăbiciune și atrofie la nivelul mâinilor și picioarelor, inclusiv neuropatia asociată cu SORD.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "spinal-muscular-atrophy",
        "name": "Atrofia musculară spinală",
        "diseases": [
          {
            "mondoId": "MONDO:0001516",
            "name": "Atrofia musculară spinală",
            "genes": 28,
            "inheritance": null,
            "description": "Un grup de tulburări caracterizate prin degenerarea celulelor din coarnele anterioare ale măduvei spinării, ducând la slăbiciune musculară progresivă și atrofie.",
            "management": "Terapie genică (onasemnogen abeparvovec), terapie cu oligonucleotide antisens (nusinersen), modulator oral al splicing-ului (risdiplam), îngrijire de susținere",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/spinal-muscular-atrophy"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Tulburări neurodegenerative ereditare",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Tulburare neurodegenerativă asociată cu KIF5A",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Cauzată de modificări ale unei copii a genei KIF5A, care codifică o proteină motorie cu o coadă de legare a cargoului. Diferite tipuri de modificări duc la afecțiuni diferite: paraplegie spastică ereditară de tip 10, o formă axonală a bolii Charcot-Marie-Tooth și scleroza laterală amiotrofică (SLA).",
            "management": "Tratamentul este simptomatic și depinde de manifestări, incluzând kinetoterapie, medicamente antispastice și îngrijire multidisciplinară pentru SLA. Fiecare copil al unei persoane afectate are o șansă de 1 din 2 de a moșteni modificarea; consilierea genetică ajută familiile să înțeleagă acest lucru.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Neuropatii periferice ereditare rare",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Neuropatie periferică ereditară",
            "genes": 233,
            "inheritance": null,
            "description": "Cauzată de modificări ale uneia dintre numeroasele gene necesare pentru menținerea sănătății fibrelor nervoase lungi. În acest raport, acestea includ IGHMBP2 și PLEKHG5, care sunt recesive.",
            "management": "Fizioterapia, ortezele și terapia ocupațională ajută la menținerea mobilității, iar intervenția chirurgicală pentru deformările piciorului se efectuează atunci când este necesar. Unele forme necesită monitorizarea funcției respiratorii. Consilierea genetică ghidează testarea membrilor familiei în funcție de modelul de transmitere al genei implicate.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "decreased-achilles-reflex",
        "name": "Decreased Achilles reflex",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-achilles-reflex"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "slug": "difficulty-running",
        "name": "Difficulty running",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/difficulty-running"
      },
      {
        "slug": "emg-chronic-denervation-signs",
        "name": "EMG: chronic denervation signs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/emg-chronic-denervation-signs"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "lower-limb-amyotrophy",
        "name": "Lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/lower-limb-amyotrophy"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "fasciculations",
        "name": "Muscle twitch",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/fasciculations"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "spinal-muscular-atrophy",
        "name": "Spinal muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spinal-muscular-atrophy"
      },
      {
        "slug": "triceps-weakness",
        "name": "Triceps weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/triceps-weakness"
      },
      {
        "slug": "weakness-of-the-intrinsic-hand-muscles",
        "name": "Weakness of the intrinsic hand muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/weakness-of-the-intrinsic-hand-muscles"
      }
    ],
    "related": [
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 4,
        "url": "https://dantelabs.com/ro/genes/atp7a"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 4,
        "url": "https://dantelabs.com/ro/genes/bscl2"
      },
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "name": "dynactin subunit 1",
        "shared": 4,
        "url": "https://dantelabs.com/ro/genes/dctn1"
      },
      {
        "slug": "dnajb2",
        "symbol": "DNAJB2",
        "name": "DnaJ heat shock protein family (Hsp40) member B2",
        "shared": 4,
        "url": "https://dantelabs.com/ro/genes/dnajb2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 4,
        "url": "https://dantelabs.com/ro/genes/dync1h1"
      },
      {
        "slug": "emilin1",
        "symbol": "EMILIN1",
        "name": "elastin microfibril interfacer 1",
        "shared": 4,
        "url": "https://dantelabs.com/ro/genes/emilin1"
      },
      {
        "slug": "gars1",
        "symbol": "GARS1",
        "name": "glycyl-tRNA synthetase 1",
        "shared": 4,
        "url": "https://dantelabs.com/ro/genes/gars1"
      },
      {
        "slug": "hspb8",
        "symbol": "HSPB8",
        "name": "heat shock protein family B (small) member 8",
        "shared": 4,
        "url": "https://dantelabs.com/ro/genes/hspb8"
      },
      {
        "slug": "ighmbp2",
        "symbol": "IGHMBP2",
        "name": "immunoglobulin mu DNA binding protein 2",
        "shared": 4,
        "url": "https://dantelabs.com/ro/genes/ighmbp2"
      },
      {
        "slug": "plekhg5",
        "symbol": "PLEKHG5",
        "name": "pleckstrin homology and RhoGEF domain containing G5",
        "shared": 4,
        "url": "https://dantelabs.com/ro/genes/plekhg5"
      },
      {
        "slug": "reep1",
        "symbol": "REEP1",
        "name": "receptor accessory protein 1",
        "shared": 4,
        "url": "https://dantelabs.com/ro/genes/reep1"
      },
      {
        "slug": "sigmar1",
        "symbol": "SIGMAR1",
        "name": "sigma receptor chaperone 1",
        "shared": 4,
        "url": "https://dantelabs.com/ro/genes/sigmar1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}