{
  "url": "https://dantelabs.com/es/genes/slc39a8",
  "gene": {
    "slug": "slc39a8",
    "symbol": "SLC39A8",
    "name": "solute carrier family 39 member 8",
    "hgnc": "HGNC:20862",
    "summary": null,
    "location": "4q24",
    "locusType": "gene with protein product",
    "aliases": [
      "BIGM103",
      "ZIP8",
      "ZIP-8"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000138821",
    "entrezId": 64116,
    "omim": [
      "608732"
    ],
    "uniprot": [
      "Q9C0K1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 102261666,
      "end": 102345482,
      "strand": "-",
      "ensemblTranscript": "ENST00000356736.5",
      "refseqTranscript": "NM_001135146.2",
      "ensemblProtein": "ENSP00000349174.4",
      "refseqProtein": "NP_001128618.1",
      "exons": [
        {
          "start": 102261666,
          "end": 102263193
        },
        {
          "start": 102267490,
          "end": 102267674
        },
        {
          "start": 102267872,
          "end": 102268079
        },
        {
          "start": 102304317,
          "end": 102304481
        },
        {
          "start": 102304989,
          "end": 102305111
        },
        {
          "start": 102307436,
          "end": 102307605
        },
        {
          "start": 102315668,
          "end": 102315830
        },
        {
          "start": 102344444,
          "end": 102344915
        },
        {
          "start": 102345345,
          "end": 102345482
        }
      ],
      "cds": {
        "start": 102263044,
        "end": 102344662
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 103172198,
      "end": 103352415,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 101803574,
      "end": 102803573,
      "genes": [
        {
          "symbol": "BANK1",
          "ensemblId": "ENSG00000153064",
          "biotype": "protein_coding",
          "start": 101411286,
          "end": 102074904,
          "strand": "+",
          "slug": "bank1"
        },
        {
          "symbol": "NFKB1",
          "ensemblId": "ENSG00000109320",
          "biotype": "protein_coding",
          "start": 102500911,
          "end": 102617302,
          "strand": "+",
          "slug": "nfkb1"
        },
        {
          "symbol": "MANBA",
          "ensemblId": "ENSG00000109323",
          "biotype": "protein_coding",
          "start": 102630770,
          "end": 102761000,
          "strand": "-",
          "slug": "manba"
        },
        {
          "symbol": "UBE2D3",
          "ensemblId": "ENSG00000109332",
          "biotype": "protein_coding",
          "start": 102793516,
          "end": 102869287,
          "strand": "-",
          "slug": "ube2d3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "Trastornos congénitos de la glicosilación",
        "diseases": [
          {
            "mondoId": "MONDO:0014746",
            "name": "CDG por SLC39A8",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Trastorno congénito de la glicosilación causado por variantes en el gen transportador de manganeso SLC39A8, con retraso del desarrollo, hipotonía muscular, convulsiones y concentraciones de manganeso en sangre muy bajas.",
            "management": "El manganeso en dosis altas, con o sin galactosa, bajo supervisión especializada puede mejorar la glicosilación.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0015286",
            "name": "Trastornos congénitos de la glicosilación (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Un amplio grupo de afecciones hereditarias en las que las cadenas de azúcares (glicanos) no se forman ni se unen correctamente a las proteínas y a los lípidos, y que a menudo afectan al cerebro, el hígado, la coagulación sanguínea, el crecimiento y otros muchos sistemas del organismo. La mayoría son autosómicas recesivas, pero algunas son ligadas al cromosoma X o autosómicas dominantes.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/es/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-zinc-concentration",
        "name": "Abnormal circulating zinc concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-zinc-concentration"
      },
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "cerebellar-vermis-atrophy",
        "name": "Cerebellar vermis atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-ii",
        "name": "Decreased activity of mitochondrial complex II",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-ii"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "decreased-activity-of-the-pyruvate-dehydrogenase-complex",
        "name": "Decreased activity of the pyruvate dehydrogenase complex",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-activity-of-the-pyruvate-dehydrogenase-complex"
      },
      {
        "slug": "decreased-mitochondrial-complex-iii-activity-in-liver-tissue",
        "name": "Decreased mitochondrial complex III activity in liver tissue",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-mitochondrial-complex-iii-activity-in-liver-tissue"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-ability-to-sit",
        "name": "Delayed ability to sit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-sit"
      },
      {
        "slug": "disproportionate-short-limb-short-stature",
        "name": "Disproportionate short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "elevated-brain-lactate-level-by-mrs",
        "name": "Elevated brain lactate level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-brain-lactate-level-by-mrs"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypomanganesemia",
        "name": "Hypomanganesemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypomanganesemia"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "limb-undergrowth",
        "name": "Limb undergrowth",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limb-undergrowth"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "profound-global-developmental-delay",
        "name": "Profound global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/profound-global-developmental-delay"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "severe-muscular-hypotonia",
        "name": "Severely decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-muscular-hypotonia"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sudden-episodic-apnea",
        "name": "Sudden episodic apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sudden-episodic-apnea"
      },
      {
        "slug": "type-ii-transferrin-isoform-profile",
        "name": "Type II transferrin isoform profile",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/type-ii-transferrin-isoform-profile"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "visual-fixation-instability",
        "name": "Visual fixation instability",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-fixation-instability"
      },
      {
        "slug": "cutaneous-syndactyly-of-toes",
        "name": "Webbed skin of toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutaneous-syndactyly-of-toes"
      }
    ],
    "related": [
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/a4galt"
      },
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/alg1"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/alg11"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/alg12"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/alg13"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/alg2"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/alg3"
      },
      {
        "slug": "alg6",
        "symbol": "ALG6",
        "name": "ALG6 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/alg6"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/alg9"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/atp6ap1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}