{ "url": "https://dantelabs.com/et/genes/slc9a1", "gene": { "slug": "slc9a1", "symbol": "SLC9A1", "name": "solute carrier family 9 member A1", "hgnc": "HGNC:11071", "summary": null, "location": "1p36.11", "locusType": "gene with protein product", "aliases": [ "PPP1R143" ], "previousSymbols": [ "APNH", "NHE1", "NHE-1" ], "ensemblId": "ENSG00000090020", "entrezId": 6548, "omim": [ "107310" ], "uniprot": [ "P19634" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 27098809, "end": 27155125, "strand": "-", "ensemblTranscript": "ENST00000263980.8", "refseqTranscript": "NM_003047.5", "ensemblProtein": "ENSP00000263980.3", "refseqProtein": "NP_003038.2", "exons": [ { "start": 27098809, "end": 27100644 }, { "start": 27101203, "end": 27101275 }, { "start": 27101725, "end": 27101826 }, { "start": 27102016, "end": 27102130 }, { "start": 27102385, "end": 27102558 }, { "start": 27102673, "end": 27102743 }, { "start": 27103223, "end": 27103312 }, { "start": 27105885, "end": 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"biotype": "protein_coding", "start": 27000133, "end": 27012884, "strand": "-", "slug": "tent5b" }, { "symbol": "WDTC1", "ensemblId": "ENSG00000142784", "biotype": "protein_coding", "start": 27233776, "end": 27308715, "strand": "+", "slug": "wdtc1" }, { "symbol": "TMEM222", "ensemblId": "ENSG00000186501", "biotype": "protein_coding", "start": 27322139, "end": 27336401, "strand": "+", "slug": "tmem222" }, { "symbol": "SYTL1", "ensemblId": "ENSG00000142765", "biotype": "protein_coding", "start": 27342009, "end": 27353937, "strand": "+", "slug": "sytl1" }, { "symbol": "MAP3K6", "ensemblId": "ENSG00000142733", "biotype": "protein_coding", "start": 27355179, "end": 27366986, "strand": "-", "slug": "map3k6" }, { "symbol": "FCN3", "ensemblId": "ENSG00000142748", "biotype": "protein_coding", "start": 27369108, "end": 27374920, "strand": "-", "slug": "fcn3" }, { "symbol": "CD164L2", "ensemblId": "ENSG00000174950", "biotype": "protein_coding", "start": 27379176, "end": 27383339, "strand": "-", "slug": "cd164l2" }, { "symbol": "GPR3", "ensemblId": "ENSG00000181773", "biotype": "protein_coding", "start": 27392614, "end": 27395814, "strand": "+", "slug": "gpr3" }, { "symbol": "WASF2", "ensemblId": "ENSG00000158195", "biotype": "protein_coding", "start": 27404226, "end": 27490308, "strand": "-", "slug": "wasf2" }, { "symbol": "AHDC1", "ensemblId": "ENSG00000126705", "biotype": "protein_coding", "start": 27534035, "end": 27604431, "strand": "-", "slug": "ahdc1" }, { "symbol": "FGR", "ensemblId": "ENSG00000000938", "biotype": "protein_coding", "start": 27611388, "end": 27635565, "strand": "-", "slug": "fgr" } ], "truncated": false }, "reports": [ { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Autosomaalselt retsessiivsed tserebellaarsed ataksiad (sh CANVAS ja AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Autosomaalselt retsessiivne tserebellaarne ataksia", "genes": 57, "inheritance": "autosomal-recessive", "description": "Retsessiivselt pärandunud ataksiate rühm, mida põhjustavad bialleelsed variandid geenides nagu RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 ja SYNE1.", "management": "E-vitamiini puudulikkusega ataksiat (TTPA) saab ravida E-vitamiini lisanditega; teisi vorme ravitakse füsioteraapia ja sümptomite leevendamisega ning lähisugulastele saab pakkuda kandjatesti.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/et/conditions/autosomal-recessive-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "action-tremor", "name": "Action tremor", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/action-tremor" }, { "slug": "areflexia-of-lower-limbs", "name": "Areflexia of lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/areflexia-of-lower-limbs" }, { "slug": "areflexia-of-upper-limbs", "name": "Areflexia of upper limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/areflexia-of-upper-limbs" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "cafe-au-lait-spot", "name": "Birthmark", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cafe-au-lait-spot" }, { "slug": "cerebellar-vermis-atrophy", "name": "Cerebellar vermis atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dysdiadochokinesis", "name": "Difficulty performing quick and alternating movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysdiadochokinesis" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "vestibular-hyporeflexia", "name": "Vestibular hyporeflexia", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vestibular-hyporeflexia" } ], "related": [ { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 1, "url": "https://dantelabs.com/et/genes/ahi1" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 1, "url": "https://dantelabs.com/et/genes/ano10" }, { "slug": "atcay", "symbol": "ATCAY", "name": "ATCAY kinesin light chain interacting caytaxin", "shared": 1, "url": "https://dantelabs.com/et/genes/atcay" }, { "slug": "atg7", "symbol": "ATG7", "name": "autophagy related 7", "shared": 1, "url": "https://dantelabs.com/et/genes/atg7" }, { "slug": "atp8a2", "symbol": "ATP8A2", "name": "ATPase phospholipid transporting 8A2", "shared": 1, "url": "https://dantelabs.com/et/genes/atp8a2" }, { "slug": "ca8", "symbol": "CA8", "name": "carbonic anhydrase 8 (inactive)", "shared": 1, "url": "https://dantelabs.com/et/genes/ca8" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 1, "url": "https://dantelabs.com/et/genes/cc2d2a" }, { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 1, "url": "https://dantelabs.com/et/genes/cep290" }, { "slug": "cep41", "symbol": "CEP41", "name": "centrosomal protein 41", "shared": 1, "url": "https://dantelabs.com/et/genes/cep41" }, { "slug": "coa7", "symbol": "COA7", "name": "cytochrome c oxidase assembly factor 7", "shared": 1, "url": "https://dantelabs.com/et/genes/coa7" }, { "slug": "coq8a", "symbol": "COQ8A", "name": "coenzyme Q8A", "shared": 1, "url": "https://dantelabs.com/et/genes/coq8a" }, { "slug": "cspp1", "symbol": "CSPP1", "name": "centrosome and spindle pole associated protein 1", "shared": 1, "url": "https://dantelabs.com/et/genes/cspp1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }