{
  "url": "https://dantelabs.com/lt/genes/slc33a1",
  "gene": {
    "slug": "slc33a1",
    "symbol": "SLC33A1",
    "name": "solute carrier family 33 member 1",
    "hgnc": "HGNC:95",
    "summary": null,
    "location": "3q25.31",
    "locusType": "gene with protein product",
    "aliases": [
      "AT-1",
      "AT1"
    ],
    "previousSymbols": [
      "ACATN",
      "SPG42"
    ],
    "ensemblId": "ENSG00000169359",
    "entrezId": 9197,
    "omim": [
      "603690"
    ],
    "uniprot": [
      "O00400"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 155821024,
      "end": 155854427,
      "strand": "-",
      "ensemblTranscript": "ENST00000643144.2",
      "refseqTranscript": "NM_004733.4",
      "ensemblProtein": "ENSP00000496241.1",
      "refseqProtein": "NP_004724.1",
      "exons": [
        {
          "start": 155821024,
          "end": 155828377
        },
        {
          "start": 155829688,
          "end": 155829903
        },
        {
          "start": 155833468,
          "end": 155833585
        },
        {
          "start": 155833857,
          "end": 155834041
        },
        {
          "start": 155842432,
          "end": 155842619
        },
        {
          "start": 155853223,
          "end": 155854427
        }
      ],
      "cds": {
        "start": 155828210,
        "end": 155853997
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 155538813,
      "end": 155572218,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 155337726,
      "end": 156337725,
      "genes": [
        {
          "symbol": "PLCH1",
          "ensemblId": "ENSG00000114805",
          "biotype": "protein_coding",
          "start": 155375578,
          "end": 155745094,
          "strand": "-",
          "slug": "plch1"
        },
        {
          "symbol": "MISO1",
          "ensemblId": "ENSG00000174928",
          "biotype": "protein_coding",
          "start": 155762607,
          "end": 155806288,
          "strand": "-",
          "slug": "miso1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284952",
          "biotype": "protein_coding",
          "start": 155763043,
          "end": 155854442,
          "strand": "-"
        },
        {
          "symbol": "GMPS",
          "ensemblId": "ENSG00000163655",
          "biotype": "protein_coding",
          "start": 155870467,
          "end": 155944020,
          "strand": "+",
          "slug": "gmps"
        },
        {
          "symbol": "KCNAB1",
          "ensemblId": "ENSG00000169282",
          "biotype": "protein_coding",
          "start": 156037701,
          "end": 156538757,
          "strand": "+",
          "slug": "kcnab1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebrospinal-fluid-morphology",
        "name": "Abnormal cerebrospinal fluid morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-cerebrospinal-fluid-morphology"
      },
      {
        "slug": "abnormal-lower-limb-motor-evoked-potentials",
        "name": "Abnormal lower-limb motor evoked potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-lower-limb-motor-evoked-potentials"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "clonus",
        "name": "Clonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clonus"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "cns-hypomyelination",
        "name": "CNS hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cns-hypomyelination"
      },
      {
        "slug": "decreased-circulating-copper-concentration",
        "name": "Copper deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-copper-concentration"
      },
      {
        "slug": "decreased-circulating-ceruloplasmin-concentration",
        "name": "Decreased serum ceruloplasmin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-ceruloplasmin-concentration"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "degeneration-of-the-lateral-corticospinal-tracts",
        "name": "Degeneration of the lateral corticospinal tracts",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/degeneration-of-the-lateral-corticospinal-tracts"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "impaired-vibration-sensation-in-the-lower-limbs",
        "name": "Impaired vibration sensation in the lower limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "lower-limb-amyotrophy",
        "name": "Lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-amyotrophy"
      },
      {
        "slug": "lower-limb-hypertonia",
        "name": "Lower limb hypertonia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-hypertonia"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "lower-limb-hyperreflexia",
        "name": "Overactive lower leg reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia"
      },
      {
        "slug": "progressive-spastic-paraplegia",
        "name": "Progressive spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-spastic-paraplegia"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "spastic-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "spinal-cord-lesion",
        "name": "Spinal cord lesion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spinal-cord-lesion"
      },
      {
        "slug": "widened-subarachnoid-space",
        "name": "Widened subarachnoid space",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/widened-subarachnoid-space"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}