{ "url": "https://dantelabs.com/pt/genes/galk1", "gene": { "slug": "galk1", "symbol": "GALK1", "name": "galactokinase 1", "hgnc": "HGNC:4118", "summary": null, "location": "17q25.1", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "GALK" ], "ensemblId": "ENSG00000108479", "entrezId": 2584, "omim": [ "604313" ], "uniprot": [ "P51570" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 75757894, "end": 75765192, "strand": "-", "ensemblTranscript": "ENST00000588479.6", "refseqTranscript": "NM_000154.2", "ensemblProtein": "ENSP00000465930.1", "refseqProtein": "NP_000145.1", "exons": [ { "start": 75757894, "end": 75758127 }, { "start": 75758210, "end": 75758372 }, { "start": 75758449, "end": 75758599 }, { "start": 75762704, "end": 75762885 }, { "start": 75763014, "end": 75763149 }, { "start": 75763320, "end": 75763439 }, { "start": 75763897, "end": 75764086 }, { "start": 75764972, "end": 75765192 } ], "cds": { "start": 75758056, "end": 75765136 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 73747675, "end": 73761792, "strand": "-" }, "neighbourhood": { "release": "116", "start": 75261543, "end": 76261542, "genes": [ { "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": "SLC25A19", "ensemblId": "ENSG00000125454", "biotype": "protein_coding", "start": 75272012, "end": 75289968, "strand": "-", "slug": "slc25a19" }, { "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": "H3-3B", "ensemblId": "ENSG00000132475", "biotype": "protein_coding", "start": 75776434, "end": 75785893, "strand": "-", "slug": "h3-3b" }, { "symbol": "UNK", "ensemblId": "ENSG00000132478", "biotype": "protein_coding", "start": 75784799, "end": 75825799, "strand": "+", "slug": "unk" }, { "symbol": "UNC13D", "ensemblId": "ENSG00000092929", "biotype": "protein_coding", "start": 75827032, "end": 75845353, "strand": "-", "slug": "unc13d" }, { "symbol": "WBP2", "ensemblId": "ENSG00000132471", "biotype": "protein_coding", "start": 75845699, "end": 75856507, "strand": "-", "slug": "wbp2" }, { "symbol": "TRIM47", "ensemblId": "ENSG00000132481", "biotype": "protein_coding", "start": 75874161, "end": 75878637, "strand": "-", "slug": "trim47" }, { "symbol": "TRIM65", "ensemblId": "ENSG00000141569", "biotype": "protein_coding", "start": 75879538, "end": 75897018, "strand": "-", "slug": "trim65" }, { "symbol": "MRPL38", "ensemblId": "ENSG00000204316", "biotype": "protein_coding", "start": 75898642, "end": 75905097, "strand": "-", "slug": "mrpl38" }, { "symbol": "", "ensemblId": "ENSG00000267426", "biotype": "protein_coding", "start": 75898645, "end": 75930129, "strand": "-" }, { "symbol": "FBF1", "ensemblId": "ENSG00000188878", "biotype": "protein_coding", "start": 75908212, "end": 75941140, "strand": "-", "slug": "fbf1" }, { "symbol": "ACOX1", "ensemblId": "ENSG00000161533", "biotype": "protein_coding", "start": 75941507, "end": 75979459, "strand": "-", "slug": "acox1" }, { "symbol": "TEN1", "ensemblId": "ENSG00000257949", "biotype": "protein_coding", "start": 75979212, "end": 76000587, "strand": "+", "slug": "ten1" }, { "symbol": "TEN1-CDK3", "ensemblId": "ENSG00000261408", "biotype": "protein_coding", "start": 75979231, "end": 76005999, "strand": "+", "slug": "ten1-cdk3" }, { "symbol": "CDK3", "ensemblId": "ENSG00000250506", "biotype": "protein_coding", "start": 76000644, "end": 76005999, "strand": "+", "slug": "cdk3" }, { "symbol": "EVPL", "ensemblId": "ENSG00000167880", "biotype": "protein_coding", "start": 76004379, "end": 76027465, "strand": "-", "slug": "evpl" }, { "symbol": "SRP68", "ensemblId": "ENSG00000167881", "biotype": "protein_coding", "start": 76037989, "end": 76072718, "strand": "-", "slug": "srp68" }, { "symbol": "ZACN", "ensemblId": "ENSG00000186919", "biotype": "protein_coding", "start": 76071961, "end": 76083666, "strand": "+", "slug": "zacn" }, { "symbol": "GALR2", "ensemblId": "ENSG00000182687", "biotype": "protein_coding", "start": 76074773, "end": 76077537, "strand": "+", "slug": "galr2" }, { "symbol": "EXOC7", "ensemblId": "ENSG00000182473", "biotype": "protein_coding", "start": 76080995, "end": 76121576, "strand": "-", "slug": "exoc7" }, { "symbol": "FOXJ1", "ensemblId": "ENSG00000129654", "biotype": "protein_coding", "start": 76136333, "end": 76141256, "strand": "-", "slug": "foxj1" }, { "symbol": "RNF157", "ensemblId": "ENSG00000141576", "biotype": "protein_coding", "start": 76142460, "end": 76240662, "strand": "-", "slug": "rnf157" } ], "truncated": false }, "reports": [ { "slug": "galactosemia", "name": "Galactosemia", "diseases": [ { "mondoId": "MONDO:0018116", "name": "Galactosemia", "genes": 4, "inheritance": "autosomal-recessive", "description": "Inclui a galactosemia clássica (GALT) e as deficiências de galactoquinase (GALK1), de epimerase (GALE) e de mutarrotase (GALM), que podem causar doença com risco de vida em recém-nascidos, problemas hepáticos ou cataratas; a variante Duarte comum, por si só, normalmente não causa doença.", "management": "Conhecer esta condição permite retirar a galactose da alimentação de forma atempada, o que previne a doença aguda do recém-nascido e, na deficiência de galactoquinase, as cataratas.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/galactosemia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-circulating-enzyme-concentration-or-activity", "name": "Abnormal circulating enzyme concentration or activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "premature-ovarian-insufficiency", "name": "Early menopause", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency" }, { "slug": "elevated-circulating-galactitol-concentration", "name": "Elevated circulating galactitol concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/elevated-circulating-galactitol-concentration" }, { "slug": "hypercholesterolemia", "name": "Elevated serum cholesterol", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypercholesterolemia" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "hypergalactosemia", "name": "Hypergalactosemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypergalactosemia" }, { "slug": "hypergonadotropic-hypogonadism", "name": "Hypergonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism" }, { "slug": "hyperinsulinemia", "name": "Hyperinsulinemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperinsulinemia" }, { "slug": "increased-level-of-galactitol-in-urine", "name": "Increased level of galactitol in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-level-of-galactitol-in-urine" }, { "slug": "galactosuria", "name": "Increased urinary galactose level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/galactosuria" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "neonatal-asphyxia", "name": "Neonatal asphyxia", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/neonatal-asphyxia" }, { "slug": "premature-birth", "name": "Premature birth", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/premature-birth" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "psychomotor-deterioration", "name": "Psychomotor deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/psychomotor-deterioration" }, { "slug": "reduced-circulating-complement-concentration", "name": "Reduced circulating complement concentration", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/reduced-circulating-complement-concentration" }, { "slug": "reduced-erythrocyte-galactokinase-activity", "name": "Reduced erythrocyte galactokinase activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-erythrocyte-galactokinase-activity" }, { "slug": "increased-intracranial-pressure", "name": "Rise in pressure inside skull", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-intracranial-pressure" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "speech-apraxia", "name": "Speech apraxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/speech-apraxia" }, { "slug": "nuclear-cataract", "name": "Yellowish cloudy center of lens", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nuclear-cataract" } ], "related": [ { "slug": "gale", "symbol": "GALE", "name": "UDP-galactose-4-epimerase", "shared": 1, "url": "https://dantelabs.com/pt/genes/gale" }, { "slug": "galm", "symbol": "GALM", "name": "galactose mutarotase", "shared": 1, "url": "https://dantelabs.com/pt/genes/galm" }, { "slug": "galt", "symbol": "GALT", "name": "galactose-1-phosphate uridylyltransferase", "shared": 1, "url": "https://dantelabs.com/pt/genes/galt" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }