{ "url": "https://dantelabs.com/ko/genes/slc25a19", "gene": { "slug": "slc25a19", "symbol": "SLC25A19", "name": "solute carrier family 25 member 19", "hgnc": "HGNC:14409", "summary": null, "location": "17q25.1", "locusType": "gene with protein product", "aliases": [ "DNC", "MUP1", "TPC" ], "previousSymbols": [ "MCPHA" ], "ensemblId": "ENSG00000125454", "entrezId": 60386, "omim": [ "606521" ], "uniprot": [ "Q9HC21" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 75272992, "end": 75289433, "strand": "-", "ensemblTranscript": "ENST00000416858.7", "refseqTranscript": "NM_001126121.2", "ensemblProtein": "ENSP00000397818.2", "refseqProtein": "NP_001119593.1", "exons": [ { "start": 75272992, "end": 75273639 }, { "start": 75277353, "end": 75277483 }, { "start": 75278152, "end": 75278335 }, { "start": 75283423, "end": 75283593 }, { "start": 75286304, "end": 75286459 }, { "start": 75286633, "end": 75286802 }, { "start": 75288502, "end": 75288591 }, { "start": 75289354, "end": 75289433 } ], "cds": { "start": 75273451, "end": 75286764 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 73269073, "end": 73285591, "strand": "-" }, "neighbourhood": { "release": "116", "start": 74781213, "end": 75781212, "genes": [ { "symbol": "SLC38A12", "ensemblId": "ENSG00000109066", "biotype": "protein_coding", "start": 74776477, "end": 74839764, "strand": "+", "slug": "slc38a12" }, { "symbol": "GRIN2C", "ensemblId": "ENSG00000161509", "biotype": "protein_coding", "start": 74842022, "end": 74861772, "strand": "-", "slug": "grin2c" }, { "symbol": "FDXR", "ensemblId": "ENSG00000161513", "biotype": "protein_coding", "start": 74862494, "end": 74873039, "strand": "-", "slug": "fdxr" }, { "symbol": "FADS6", "ensemblId": "ENSG00000172782", "biotype": "protein_coding", "start": 74877281, "end": 74893781, "strand": "-", "slug": "fads6" }, { "symbol": "USH1G", "ensemblId": "ENSG00000182040", "biotype": "protein_coding", "start": 74916083, "end": 74923256, "strand": "-", "slug": "ush1g" }, { "symbol": "OTOP2", "ensemblId": "ENSG00000183034", "biotype": "protein_coding", "start": 74922950, "end": 74933912, "strand": "+", "slug": "otop2" }, { "symbol": "OTOP3", "ensemblId": "ENSG00000182938", "biotype": "protein_coding", "start": 74935829, "end": 74949993, "strand": "+", "slug": "otop3" }, { "symbol": "HID1", "ensemblId": "ENSG00000167861", "biotype": "protein_coding", "start": 74950739, "end": 74973166, "strand": "-", "slug": "hid1" }, { "symbol": "CDR2L", "ensemblId": "ENSG00000109089", "biotype": "protein_coding", "start": 74987580, "end": 75005800, "strand": "+", "slug": "cdr2l" }, { "symbol": "MRPL58", "ensemblId": "ENSG00000167862", "biotype": "protein_coding", "start": 75012657, "end": 75021266, "strand": "+", "slug": "mrpl58" }, { "symbol": "KCTD2", "ensemblId": "ENSG00000180901", "biotype": "protein_coding", "start": 75032575, "end": 75065889, "strand": "+", "slug": "kctd2" }, { "symbol": "ATP5PD", "ensemblId": "ENSG00000167863", "biotype": "protein_coding", "start": 75038618, "end": 75047718, "strand": "-", "slug": "atp5pd" }, { "symbol": "SLC16A5", "ensemblId": "ENSG00000170190", "biotype": "protein_coding", "start": 75077226, "end": 75107420, "strand": "+", "slug": "slc16a5" }, { "symbol": "ARMC7", "ensemblId": "ENSG00000125449", "biotype": "protein_coding", "start": 75109941, "end": 75130272, "strand": "+", "slug": "armc7" }, { "symbol": "NT5C", "ensemblId": "ENSG00000125458", "biotype": "protein_coding", "start": 75130225, "end": 75131806, "strand": "-", "slug": "nt5c" }, { "symbol": "JPT1", "ensemblId": "ENSG00000189159", "biotype": "protein_coding", "start": 75135243, "end": 75168281, "strand": "-", "slug": "jpt1" }, { "symbol": "SUMO2", "ensemblId": "ENSG00000188612", "biotype": "protein_coding", "start": 75165586, "end": 75182991, "strand": "-", "slug": "sumo2" }, { "symbol": "NUP85", "ensemblId": "ENSG00000125450", "biotype": "protein_coding", "start": 75205482, "end": 75235759, "strand": "+", "slug": "nup85" }, { "symbol": "GGA3", "ensemblId": "ENSG00000125447", "biotype": "protein_coding", "start": 75236595, "end": 75262363, "strand": "-", "slug": "gga3" }, { "symbol": "MRPS7", "ensemblId": "ENSG00000125445", "biotype": "protein_coding", "start": 75261662, "end": 75270708, "strand": "+", "slug": "mrps7" }, { "symbol": "MIF4GD", "ensemblId": "ENSG00000125457", "biotype": "protein_coding", "start": 75266228, "end": 75271237, "strand": "-", "slug": "mif4gd" }, { "symbol": "GRB2", "ensemblId": "ENSG00000177885", "biotype": "protein_coding", "start": 75318072, "end": 75405720, "strand": "-", "slug": "grb2" }, { "symbol": "TMEM94", "ensemblId": "ENSG00000177728", "biotype": "protein_coding", "start": 75441159, "end": 75500452, "strand": "+", "slug": "tmem94" }, { "symbol": "CASKIN2", "ensemblId": "ENSG00000177303", "biotype": "protein_coding", "start": 75500261, "end": 75515621, "strand": "-", "slug": "caskin2" }, { "symbol": "TSEN54", "ensemblId": "ENSG00000182173", "biotype": "protein_coding", "start": 75515944, "end": 75524748, "strand": "+", "slug": "tsen54" }, { "symbol": "LLGL2", "ensemblId": "ENSG00000073350", "biotype": "protein_coding", "start": 75525080, "end": 75575215, "strand": "+", "slug": "llgl2" }, { "symbol": "MYO15B", "ensemblId": "ENSG00000266714", "biotype": "protein_coding", "start": 75587800, "end": 75626849, "strand": "+", "slug": "myo15b" }, { "symbol": "RECQL5", "ensemblId": "ENSG00000108469", "biotype": "protein_coding", "start": 75626839, "end": 75667197, "strand": "-", "slug": "recql5" }, { "symbol": "SMIM5", "ensemblId": "ENSG00000204323", "biotype": "protein_coding", "start": 75628368, "end": 75642570, "strand": "+", "slug": "smim5" }, { "symbol": "ERLN", "ensemblId": "ENSG00000259120", "biotype": "protein_coding", "start": 75646243, "end": 75647975, "strand": "+", "slug": "erln" }, { "symbol": "SAP30BP", "ensemblId": "ENSG00000161526", "biotype": "protein_coding", "start": 75667230, "end": 75708062, "strand": "+", "slug": "sap30bp" }, { "symbol": "ITGB4", "ensemblId": "ENSG00000132470", "biotype": "protein_coding", "start": 75721190, "end": 75757821, "strand": "+", "slug": "itgb4" }, { "symbol": "GALK1", "ensemblId": "ENSG00000108479", "biotype": "protein_coding", "start": 75751470, "end": 75765251, "strand": "-", "slug": "galk1" }, { "symbol": "H3-3B", "ensemblId": "ENSG00000132475", "biotype": "protein_coding", "start": 75776434, "end": 75785893, "strand": "-", "slug": "h3-3b" } ], "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" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "cerebellar-vermis-hypoplasia", "name": "Cerebellar vermis hypoplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "cleft-soft-palate", "name": "Cleft soft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-soft-palate" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "decreased-skull-ossification", "name": "Decreased bone formation of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-skull-ossification" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "distal-sensory-impairment", "name": "Decreased sensation in extremities", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/distal-sensory-impairment" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "lissencephaly", "name": "Fewer or absent grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lissencephaly" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "hypoplasia-of-the-fovea", "name": "Hypoplasia of the fovea", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea" }, { "slug": "increased-csf-lactate", "name": "Increased CSF lactate", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-csf-lactate" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "limb-hypertonia", "name": "Increased muscle tone of arm or leg", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-hypertonia" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "decreased-fetal-movement", "name": "Less than 10 fetal movements in 12 hours", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-fetal-movement" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "limitation-of-joint-mobility", "name": "Limitation of joint mobility", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/limitation-of-joint-mobility" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "lower-limb-joint-contracture", "name": "Lower-limb joint contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-joint-contracture" }, { "slug": "metabolic-acidosis", "name": "Metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/metabolic-acidosis" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "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": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "organic-aciduria", "name": "Organic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/organic-aciduria" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "paralysis", "name": "Paralysis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/paralysis" }, { "slug": "partial-agenesis-of-the-corpus-callosum", "name": "Partial agenesis of the corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/partial-agenesis-of-the-corpus-callosum" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy" }, { "slug": "poor-suck", "name": "Poor suck", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/poor-suck" }, { "slug": "severe-global-developmental-delay", "name": "Severe global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-global-developmental-delay" }, { "slug": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "small-anterior-fontanelle", "name": "Small anterior fontanelle", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/small-anterior-fontanelle" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "primary-microcephaly", "name": "Small head present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/primary-microcephaly" }, { "slug": "spina-bifida", "name": "Split spine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spina-bifida" }, { "slug": "temperature-instability", "name": "Temperature instability", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/temperature-instability" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "slc19a2", "symbol": "SLC19A2", "name": "solute carrier family 19 member 2", "shared": 1, "url": "https://dantelabs.com/ko/genes/slc19a2" }, { "slug": "slc19a3", "symbol": "SLC19A3", "name": "solute carrier family 19 member 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/slc19a3" }, { "slug": "tpk1", "symbol": "TPK1", "name": "thiamin pyrophosphokinase 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/tpk1" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }