{
  "url": "https://dantelabs.com/de/genes/ap3b1",
  "gene": {
    "slug": "ap3b1",
    "symbol": "AP3B1",
    "name": "adaptor related protein complex 3 subunit beta 1",
    "hgnc": "HGNC:566",
    "summary": null,
    "location": "5q14.1",
    "locusType": "gene with protein product",
    "aliases": [
      "ADTB3A",
      "HPS2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000132842",
    "entrezId": 8546,
    "omim": [
      "603401"
    ],
    "uniprot": [
      "O00203"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 78002326,
      "end": 78294698,
      "strand": "-",
      "ensemblTranscript": "ENST00000255194.11",
      "refseqTranscript": "NM_003664.5",
      "ensemblProtein": "ENSP00000255194.7",
      "refseqProtein": "NP_003655.3",
      "exons": [
        {
          "start": 78002326,
          "end": 78003055
        },
        {
          "start": 78015410,
          "end": 78015548
        },
        {
          "start": 78020692,
          "end": 78020789
        },
        {
          "start": 78034361,
          "end": 78034445
        },
        {
          "start": 78039043,
          "end": 78039274
        },
        {
          "start": 78089393,
          "end": 78089499
        },
        {
          "start": 78100953,
          "end": 78101025
        },
        {
          "start": 78110207,
          "end": 78110354
        },
        {
          "start": 78113752,
          "end": 78113923
        },
        {
          "start": 78116126,
          "end": 78116234
        },
        {
          "start": 78128030,
          "end": 78128160
        },
        {
          "start": 78129121,
          "end": 78129307
        },
        {
          "start": 78141143,
          "end": 78141319
        },
        {
          "start": 78156258,
          "end": 78156367
        },
        {
          "start": 78162819,
          "end": 78162951
        },
        {
          "start": 78165610,
          "end": 78165672
        },
        {
          "start": 78175626,
          "end": 78175697
        },
        {
          "start": 78175784,
          "end": 78175838
        },
        {
          "start": 78177339,
          "end": 78177436
        },
        {
          "start": 78181507,
          "end": 78181662
        },
        {
          "start": 78216055,
          "end": 78216237
        },
        {
          "start": 78225542,
          "end": 78225608
        },
        {
          "start": 78227372,
          "end": 78227532
        },
        {
          "start": 78228144,
          "end": 78228239
        },
        {
          "start": 78240862,
          "end": 78240936
        },
        {
          "start": 78267520,
          "end": 78267595
        },
        {
          "start": 78294452,
          "end": 78294698
        }
      ],
      "cds": {
        "start": 78002902,
        "end": 78294579
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 77296349,
      "end": 77590579,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 77648512,
      "end": 78648511,
      "genes": [
        {
          "symbol": "TBCA",
          "ensemblId": "ENSG00000171530",
          "biotype": "protein_coding",
          "start": 77690172,
          "end": 77868780,
          "strand": "-",
          "slug": "tbca"
        },
        {
          "symbol": "SCAMP1",
          "ensemblId": "ENSG00000085365",
          "biotype": "protein_coding",
          "start": 78360101,
          "end": 78480739,
          "strand": "+",
          "slug": "scamp1"
        },
        {
          "symbol": "LHFPL2",
          "ensemblId": "ENSG00000145685",
          "biotype": "protein_coding",
          "start": 78482020,
          "end": 78770021,
          "strand": "-",
          "slug": "lhfpl2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hermansky-pudlak-syndrome",
        "name": "Hermansky-Pudlak-Syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0019312",
            "name": "Hermansky-Pudlak-Syndrom",
            "genes": 11,
            "inheritance": "autosomal-recessive",
            "description": "Das Hermansky-Pudlak-Syndrom (HPS) ist eine Multisystemerkrankung, die durch okulokutanen Albinismus, eine erhöhte Blutungsneigung und in einigen Fällen durch Neutropenie, Lungenfibrose oder granulomatöse Kolitis gekennzeichnet ist. Das HPS umfasst acht bekannte Formen (HPS-1 bis HPS-8), von denen die meisten ein ähnliches klinisches Erscheinungsbild mit unterschiedlichen Schweregraden aufweisen.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/hermansky-pudlak-syndrome"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Sonstige angeborene Immundefekte",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Inborn error of immunity",
            "genes": 114,
            "inheritance": null,
            "description": "Erbliche Störungen des Immunsystems, die durch Veränderungen einzelner Gene verursacht werden und beeinflussen, wie der Körper Infektionen abwehrt oder Entzündungen reguliert.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/de/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "aberrant-melanosome-maturation",
        "name": "Aberrant melanosome maturation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/aberrant-melanosome-maturation"
      },
      {
        "slug": "abnormal-natural-killer-cell-physiology",
        "name": "Abnormal natural killer cell physiology",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-natural-killer-cell-physiology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "ocular-albinism",
        "name": "Absent pigmentation in the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ocular-albinism"
      },
      {
        "slug": "absent-platelet-dense-granules",
        "name": "Absent platelet dense granules",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-platelet-dense-granules"
      },
      {
        "slug": "acetabular-dysplasia",
        "name": "Acetabular dysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acetabular-dysplasia"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "albinism",
        "name": "Albinism",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/albinism"
      },
      {
        "slug": "recurrent-oral-thrush",
        "name": "Chronic oral thrush",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-oral-thrush"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "enlarged-platelet-dense-granules",
        "name": "Enlarged platelet dense granules",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enlarged-platelet-dense-granules"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "fair-hair",
        "name": "Fair hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fair-hair"
      },
      {
        "slug": "generalized-hypopigmentation",
        "name": "Fair skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypopigmentation"
      },
      {
        "slug": "periodontitis",
        "name": "Gum disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/periodontitis"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "impaired-adp-induced-platelet-aggregation",
        "name": "Impaired ADP-induced platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-adp-induced-platelet-aggregation"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "inverted-cd4-cd8-ratio",
        "name": "Inverted CD4:CD8 ratio",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inverted-cd4-cd8-ratio"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "prolonged-bleeding-time",
        "name": "Prolonged bleeding time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-time"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "recurrent-abscess-formation",
        "name": "Recurrent abscess formation",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-abscess-formation"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "reduced-total-natural-killer-cell-count",
        "name": "Reduced total natural killer cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-total-natural-killer-cell-count"
      },
      {
        "slug": "smooth-philtrum",
        "name": "Smooth philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/smooth-philtrum"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      }
    ],
    "related": [
      {
        "slug": "bloc1s6",
        "symbol": "BLOC1S6",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/bloc1s6"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/adar"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aicda"
      },
      {
        "slug": "ap3d1",
        "symbol": "AP3D1",
        "name": "adaptor related protein complex 3 subunit delta 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ap3d1"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/blnk"
      },
      {
        "slug": "bloc1s3",
        "symbol": "BLOC1S3",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bloc1s3"
      },
      {
        "slug": "bloc1s5",
        "symbol": "BLOC1S5",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bloc1s5"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/c1qa"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}