{ "url": "https://dantelabs.com/ko/genes/slc19a3", "gene": { "slug": "slc19a3", "symbol": "SLC19A3", "name": "solute carrier family 19 member 3", "hgnc": "HGNC:16266", "summary": null, "location": "2q36.3", "locusType": "gene with protein product", "aliases": [ "THTR2", "thTr-2", "hTHTR2" ], "previousSymbols": [], "ensemblId": "ENSG00000135917", "entrezId": 80704, "omim": [ "606152" ], "uniprot": [ "Q9BZV2" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 227683763, "end": 227718028, "strand": "-", "ensemblTranscript": "ENST00000644224.2", "refseqTranscript": "NM_025243.4", "ensemblProtein": "ENSP00000495385.1", "refseqProtein": "NP_079519.1", "exons": [ { "start": 227683763, "end": 227687573 }, { "start": 227688166, "end": 227688307 }, { "start": 227695889, "end": 227696081 }, { "start": 227698736, "end": 227699564 }, { "start": 227702169, "end": 227702320 }, { "start": 227717943, "end": 227718028 } ], "cds": { "start": 227687397, "end": 227702318 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 228549926, "end": 228582728, "strand": "-" }, "neighbourhood": { "release": "116", "start": 227200896, "end": 228200895, "genes": [ { "symbol": "COL4A3", "ensemblId": "ENSG00000169031", "biotype": "protein_coding", "start": 227164509, "end": 227314792, "strand": "+", "slug": "col4a3" }, { "symbol": "MFF", "ensemblId": "ENSG00000168958", "biotype": "protein_coding", "start": 227325151, "end": 227361188, "strand": "+", "slug": "mff" }, { "symbol": "TM4SF20", "ensemblId": "ENSG00000168955", "biotype": "protein_coding", "start": 227362038, "end": 227381995, "strand": "-", "slug": "tm4sf20" }, { "symbol": "SCYGR1", "ensemblId": "ENSG00000284629", "biotype": "protein_coding", "start": 227387683, "end": 227387949, "strand": "-", "slug": "scygr1" }, { "symbol": "AGFG1", "ensemblId": "ENSG00000173744", "biotype": "protein_coding", "start": 227472134, "end": 227561411, "strand": "+", "slug": "agfg1" }, { "symbol": "SCYGR2", "ensemblId": "ENSG00000284643", "biotype": "protein_coding", "start": 227598893, "end": 227599255, "strand": "+", "slug": "scygr2" }, { "symbol": "SCYGR10", "ensemblId": "ENSG00000284622", "biotype": "protein_coding", "start": 227608784, "end": 227609101, "strand": "+", "slug": "scygr10" }, { "symbol": "SCYGR3", "ensemblId": "ENSG00000284704", "biotype": "protein_coding", "start": 227614538, "end": 227614840, "strand": "-", "slug": "scygr3" }, { "symbol": "SCYGR4", "ensemblId": "ENSG00000284631", "biotype": "protein_coding", "start": 227617498, "end": 227617815, "strand": "+", "slug": "scygr4" }, { "symbol": "SCYGR5", "ensemblId": "ENSG00000284667", "biotype": "protein_coding", "start": 227666804, "end": 227667061, "strand": "+", "slug": "scygr5" }, { "symbol": "SCYGR6", "ensemblId": "ENSG00000284725", "biotype": "protein_coding", "start": 227724440, "end": 227724757, "strand": "-", "slug": "scygr6" }, { "symbol": "SCYGR7", "ensemblId": "ENSG00000284718", "biotype": "protein_coding", "start": 227728335, "end": 227728625, "strand": "+", "slug": "scygr7" }, { "symbol": "SCYGR8", "ensemblId": "ENSG00000284635", "biotype": "protein_coding", "start": 227745894, "end": 227746220, "strand": "+", "slug": "scygr8" }, { "symbol": "CCL20", "ensemblId": "ENSG00000115009", "biotype": "protein_coding", "start": 227805739, "end": 227817564, "strand": "+", "slug": "ccl20" }, { "symbol": "DAW1", "ensemblId": "ENSG00000123977", "biotype": "protein_coding", "start": 227870931, "end": 227924344, "strand": "+", "slug": "daw1" }, { "symbol": "SPHKAP", "ensemblId": "ENSG00000153820", "biotype": "protein_coding", "start": 227979866, "end": 228182020, "strand": "-", "slug": "sphkap" } ], "truncated": false }, "reports": [ { "slug": "thiamine-transporter-and-metabolism-disorders", "name": "티아민 수송체 및 대사 장애", "diseases": [ { "mondoId": "MONDO:0017578", "name": "티아민 수송 및 대사 장애", "genes": 4, "inheritance": "autosomal-recessive", "description": "티아민 수송체 또는 티아민 활성화 과정의 유전적 결함으로 발생하며, SLC19A2, SLC19A3, TPK1, SLC25A19 등의 유전자가 원인이 될 수 있습니다. 이로 인해 빈혈, 당뇨병, 청력 손실이 나타나거나 심각한 뇌 기능 이상 발작이 일어날 수 있습니다.", "management": "질환을 미리 알면 고용량 티아민을 조기에 투여할 수 있으며, 적절한 경우 비오틴도 함께 투여할 수 있습니다. 이러한 치료는 여러 질환에서 심각한 합병증을 예방하거나 줄이는 데 도움이 될 수 있습니다.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/thiamine-transporter-and-metabolism-disorders" }, { "slug": "leigh-syndrome", "name": "리 증후군", "diseases": [ { "mondoId": "MONDO:0009723", "name": "리 증후군", "genes": 69, "inheritance": null, "description": "뇌간과 기저핵의 병변이 함께 나타나는 특징적인 신경병리학적 소견으로 정의되는 진행성 신경계 질환입니다.", "management": null, "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/ko/conditions/leigh-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-basal-ganglia-morphology", "name": "Abnormal basal ganglia morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-basal-ganglia-morphology" }, { "slug": "abnormal-brainstem-mri-signal-intensity", "name": "Abnormal brainstem MRI signal intensity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-brainstem-mri-signal-intensity" }, { "slug": "craniofacial-dystonia", "name": "Abnormal craniofacial muscle tone", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/craniofacial-dystonia" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "abnormal-pyramidal-tract-morphology", "name": "Abnormal pyramidal tract morphology", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-pyramidal-tract-morphology" }, { "slug": "action-tremor", "name": "Action tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/action-tremor" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "facial-palsy", "name": "Bell's palsy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/facial-palsy" }, { "slug": "chorea", "name": "Chorea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chorea" }, { "slug": "cogwheel-rigidity", "name": "Cogwheel rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cogwheel-rigidity" }, { "slug": "coma", "name": "Coma", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/coma" }, { "slug": "confusion", "name": "Confusion", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/confusion" }, { "slug": "floppy-infant", "name": "Decreased muscle tone in infant", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/floppy-infant" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "drowsiness", "name": "Drowsiness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/drowsiness" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/fever" }, { "slug": "frequent-falls", "name": "Frequent falls", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/frequent-falls" }, { "slug": "functional-motor-deficit", "name": "Functional motor deficit", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/functional-motor-deficit" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "mutism", "name": "Inability to speak", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mutism" }, { "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": "inappropriate-crying", "name": "Inappropriate crying", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inappropriate-crying" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "infantile-encephalopathy", "name": "Infantile encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/infantile-encephalopathy" }, { "slug": "infantile-spasms", "name": "Infantile spasms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/infantile-spasms" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "loss-of-consciousness", "name": "Loss of consciousness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/loss-of-consciousness" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "loss-of-speech", "name": "Loss of speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/loss-of-speech" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "opisthotonus", "name": "Opisthotonus", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/opisthotonus" }, { "slug": "external-ophthalmoplegia", "name": "Paralysis or weakness of muscles within or surrounding outer part of eye", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/external-ophthalmoplegia" }, { "slug": "paraparesis", "name": "Partial paralysis of legs", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/paraparesis" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "restlessness", "name": "Restlessness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/restlessness" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "small-basal-ganglia", "name": "Small basal ganglia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/small-basal-ganglia" }, { "slug": "spastic-tetraplegia", "name": "Spastic tetraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spastic-tetraplegia" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "tetraparesis", "name": "Tetraparesis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tetraparesis" }, { "slug": "truncal-titubation", "name": "Truncal titubation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/truncal-titubation" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "tpk1", "symbol": "TPK1", "name": "thiamin pyrophosphokinase 1", "shared": 2, "url": "https://dantelabs.com/ko/genes/tpk1" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/aifm1" }, { "slug": "atp5mk", "symbol": "ATP5MK", "name": "ATP synthase membrane subunit k", "shared": 1, "url": "https://dantelabs.com/ko/genes/atp5mk" }, { "slug": "btd", "symbol": "BTD", "name": "biotinidase", "shared": 1, "url": "https://dantelabs.com/ko/genes/btd" }, { "slug": "cox10", "symbol": "COX10", "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10", "shared": 1, "url": "https://dantelabs.com/ko/genes/cox10" }, { "slug": "dlat", "symbol": "DLAT", "name": "dihydrolipoamide S-acetyltransferase", "shared": 1, "url": "https://dantelabs.com/ko/genes/dlat" }, { "slug": "dld", "symbol": "DLD", "name": "dihydrolipoamide dehydrogenase", "shared": 1, "url": "https://dantelabs.com/ko/genes/dld" }, { "slug": "ears2", "symbol": "EARS2", "name": "glutamyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/ko/genes/ears2" }, { "slug": "echs1", "symbol": "ECHS1", "name": "enoyl-CoA hydratase, short chain 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/echs1" }, { "slug": "ethe1", "symbol": "ETHE1", "name": "ETHE1 persulfide dioxygenase", "shared": 1, "url": "https://dantelabs.com/ko/genes/ethe1" }, { "slug": "fars2", "symbol": "FARS2", "name": "phenylalanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/ko/genes/fars2" }, { "slug": "fbxl4", "symbol": "FBXL4", "name": "F-box and leucine rich repeat protein 4", "shared": 1, "url": "https://dantelabs.com/ko/genes/fbxl4" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }