{ "url": "https://dantelabs.com/da/genes/slc16a1", "gene": { "slug": "slc16a1", "symbol": "SLC16A1", "name": "solute carrier family 16 member 1", "hgnc": "HGNC:10922", "summary": null, "location": "1p13.2", "locusType": "gene with protein product", "aliases": [ "MCT", "MCT1" ], "previousSymbols": [], "ensemblId": "ENSG00000155380", "entrezId": 6566, "omim": [ "600682" ], "uniprot": [ "P53985" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 112911847, "end": 112956196, "strand": "-", "ensemblTranscript": "ENST00000369626.8", "refseqTranscript": "NM_003051.4", "ensemblProtein": "ENSP00000358640.4", "refseqProtein": "NP_003042.3", "exons": [ { "start": 112911847, "end": 112914165 }, { "start": 112917178, "end": 112918044 }, { "start": 112921990, "end": 112922133 }, { "start": 112929092, "end": 112929352 }, { "start": 112956035, "end": 112956196 } ], "cds": { "start": 112913891, "end": 112929308 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 113454469, "end": 113499635, "strand": "-" }, "neighbourhood": { "release": "116", "start": 112434022, "end": 113434021, "genes": [ { "symbol": "CTTNBP2NL", "ensemblId": "ENSG00000143079", "biotype": "protein_coding", "start": 112396198, "end": 112463456, "strand": "+", "slug": "cttnbp2nl" }, { "symbol": "WNT2B", "ensemblId": "ENSG00000134245", "biotype": "protein_coding", "start": 112466541, "end": 112530165, "strand": "+", "slug": "wnt2b" }, { "symbol": "ST7L", "ensemblId": "ENSG00000007341", "biotype": "protein_coding", "start": 112523473, "end": 112620825, "strand": "-", "slug": "st7l" }, { "symbol": "CAPZA1", "ensemblId": "ENSG00000116489", "biotype": "protein_coding", "start": 112619173, "end": 112672747, "strand": "+", "slug": "capza1" }, { "symbol": "MOV10", "ensemblId": "ENSG00000155363", "biotype": "protein_coding", "start": 112673141, "end": 112702415, "strand": "+", "slug": "mov10" }, { "symbol": "RHOC", "ensemblId": "ENSG00000155366", "biotype": "protein_coding", "start": 112699765, "end": 112707897, "strand": "-", "slug": "rhoc" }, { "symbol": "", "ensemblId": "ENSG00000271810", "biotype": "protein_coding", "start": 112702614, "end": 112711433, "strand": "-" }, { "symbol": "PPM1J", "ensemblId": "ENSG00000155367", "biotype": "protein_coding", "start": 112709994, "end": 112715502, "strand": "-", "slug": "ppm1j" }, { "symbol": "TAFA3", "ensemblId": "ENSG00000184599", "biotype": "protein_coding", "start": 112718881, "end": 112729076, "strand": "+", "slug": "tafa3" }, { "symbol": "LRIG2", "ensemblId": "ENSG00000198799", "biotype": "protein_coding", "start": 113073168, "end": 113132260, "strand": "+", "slug": "lrig2" }, { "symbol": "MAGI3", "ensemblId": "ENSG00000081026", "biotype": "protein_coding", "start": 113390390, "end": 113687431, "strand": "+", "slug": "magi3" } ], "truncated": false }, "reports": [ { "slug": "hyperinsulinism", "name": "Hyperinsulinisme", "diseases": [ { "mondoId": "MONDO:0007834", "name": "Adenomatose af øcellerne", "genes": 5, "inheritance": "autosomal-dominant", "description": "En sporadisk eller arvelig lidelse, kendetegnet ved fokal eller diffus vækst af cellerne i øerne af Langerhans i bugspytkirtlen. Den medfører hyperinsulinæmi og hypoglykæmi.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0002177", "name": "Hyperinsulinisme", "genes": 9, "inheritance": null, "description": "Unormalt høje niveauer af insulin i blodet.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/da/conditions/hyperinsulinism" } ], "pharmacogenomics": [], "traits": [ { "slug": "fitness", "traits": [ { "key": "lactate-transport", "title": "Laktattransport" } ], "name": "Sport og præstation", "url": "https://dantelabs.com/da/whole-genome-sequencing/fitness" } ], "phenotypes": [ { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "exercise-induced-muscle-cramps", "name": "Exercise-induced muscle cramps", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/exercise-induced-muscle-cramps" }, { "slug": "exercise-induced-muscle-fatigue", "name": "Exercise-induced muscle fatigue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/exercise-induced-muscle-fatigue" }, { "slug": "exercise-induced-muscle-stiffness", "name": "Exercise-induced muscle stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/exercise-induced-muscle-stiffness" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hyperinsulinemia", "name": "Hyperinsulinemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/hyperinsulinemia" }, { "slug": "hyperinsulinemic-hypoglycemia", "name": "Hyperinsulinemic hypoglycemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/hyperinsulinemic-hypoglycemia" }, { "slug": "hypoglycemic-seizures", "name": "Hypoglycemic seizures", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hypoglycemic-seizures" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "ketoacidosis", "name": "Ketoacidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ketoacidosis" }, { "slug": "ketonuria", "name": "Ketonuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ketonuria" }, { "slug": "ketotic-hypoglycemia", "name": "Ketotic hypoglycemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/ketotic-hypoglycemia" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "pancreatic-islet-cell-hyperplasia", "name": "Pancreatic islet-cell hyperplasia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/pancreatic-islet-cell-hyperplasia" } ], "related": [ { "slug": "gck", "symbol": "GCK", "name": "glucokinase", "shared": 2, "url": "https://dantelabs.com/da/genes/gck" }, { "slug": "glud1", "symbol": "GLUD1", "name": "glutamate dehydrogenase 1", "shared": 2, "url": "https://dantelabs.com/da/genes/glud1" }, { "slug": "hadh", "symbol": "HADH", "name": "hydroxyacyl-CoA dehydrogenase", "shared": 2, "url": "https://dantelabs.com/da/genes/hadh" }, { "slug": "kcnj11", "symbol": "KCNJ11", "name": "potassium inwardly rectifying channel subfamily J member 11", "shared": 2, "url": "https://dantelabs.com/da/genes/kcnj11" }, { "slug": "abcc8", "symbol": "ABCC8", "name": "ATP binding cassette subfamily C member 8", "shared": 1, "url": "https://dantelabs.com/da/genes/abcc8" }, { "slug": "foxa2", "symbol": "FOXA2", "name": "forkhead box A2", "shared": 1, "url": "https://dantelabs.com/da/genes/foxa2" }, { "slug": "hk1", "symbol": "HK1", "name": "hexokinase 1", "shared": 1, "url": "https://dantelabs.com/da/genes/hk1" }, { "slug": "insr", "symbol": "INSR", "name": "insulin receptor", "shared": 1, "url": "https://dantelabs.com/da/genes/insr" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }