{ "url": "https://dantelabs.com/de/genes/klhl24", "gene": { "slug": "klhl24", "symbol": "KLHL24", "name": "kelch like family member 24", "hgnc": "HGNC:25947", "summary": null, "location": "3q27.1", "locusType": "gene with protein product", "aliases": [ "DRE1", "FLJ20059", "KRIP6" ], "previousSymbols": [], "ensemblId": "ENSG00000114796", "entrezId": 54800, "omim": [ "611295" ], "uniprot": [ "Q6TFL4" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 183635623, "end": 183684519, "strand": "+", "ensemblTranscript": "ENST00000242810.11", "refseqTranscript": "NM_017644.3", "ensemblProtein": "ENSP00000242810.6", "refseqProtein": "NP_060114.2", "exons": [ { "start": 183635623, "end": 183635793 }, { "start": 183643480, "end": 183643542 }, { "start": 183650296, "end": 183651276 }, { "start": 183663458, "end": 183663642 }, { "start": 183664921, "end": 183665039 }, { "start": 183671034, "end": 183671222 }, { "start": 183672296, "end": 183672484 }, { "start": 183679086, "end": 183684519 } ], "cds": { "start": 183650357, "end": 183679286 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 183353356, "end": 183402265, "strand": "+" }, "neighbourhood": { "release": "116", "start": 183160071, "end": 184160070, "genes": [ { "symbol": "LAMP3", "ensemblId": "ENSG00000078081", "biotype": "protein_coding", "start": 183122013, "end": 183163839, "strand": "-", "slug": "lamp3" }, { "symbol": "MCF2L2", "ensemblId": "ENSG00000053524", "biotype": "protein_coding", "start": 183176121, "end": 183428948, "strand": "-", "slug": "mcf2l2" }, { "symbol": "B3GNT5", "ensemblId": "ENSG00000176597", "biotype": "protein_coding", "start": 183249214, "end": 183298504, "strand": "+", "slug": "b3gnt5" }, { "symbol": "KLHL6", "ensemblId": "ENSG00000172578", "biotype": "protein_coding", "start": 183487551, "end": 183555706, "strand": "-", "slug": "klhl6" }, { "symbol": "YEATS2", "ensemblId": "ENSG00000163872", "biotype": "protein_coding", "start": 183697748, "end": 183812809, "strand": "+", "slug": "yeats2" }, { "symbol": "", "ensemblId": "ENSG00000283765", "biotype": "protein_coding", "start": 183815568, "end": 183884889, "strand": "-" }, { "symbol": "MAP6D1", "ensemblId": "ENSG00000180834", "biotype": "protein_coding", "start": 183815881, "end": 183825612, "strand": "-", "slug": "map6d1" }, { "symbol": "PARL", "ensemblId": "ENSG00000175193", "biotype": "protein_coding", "start": 183826489, "end": 183884933, "strand": "-", "slug": "parl" }, { "symbol": "ABCC5", "ensemblId": "ENSG00000114770", "biotype": "protein_coding", "start": 183919934, "end": 184018307, "strand": "-", "slug": "abcc5" }, { "symbol": "HTR3D", "ensemblId": "ENSG00000186090", "biotype": "protein_coding", "start": 184031544, "end": 184039369, "strand": "+", "slug": "htr3d" }, { "symbol": "HTR3C", "ensemblId": "ENSG00000178084", "biotype": "protein_coding", "start": 184053047, "end": 184060673, "strand": "+", "slug": "htr3c" }, { "symbol": "HTR3E", "ensemblId": "ENSG00000186038", "biotype": "protein_coding", "start": 184097064, "end": 184106995, "strand": "+", "slug": "htr3e" }, { "symbol": "EIF2B5", "ensemblId": "ENSG00000145191", "biotype": "protein_coding", "start": 184134986, "end": 184146127, "strand": "+", "slug": "eif2b5" }, { "symbol": "DVL3", "ensemblId": "ENSG00000161202", "biotype": "protein_coding", "start": 184155159, "end": 184173616, "strand": "+", "slug": "dvl3" } ], "truncated": false }, "reports": [ { "slug": "epidermolysis-bullosa", "name": "Epidermolysis bullosa", "diseases": [ { "mondoId": "MONDO:0019276", "name": "Erbliche Epidermolysis bullosa", "genes": 19, "inheritance": null, "description": "Alle erblichen Formen der Hautverletzlichkeit mit Blasenbildung, einschließlich Epidermolysis bullosa simplex, junktionale und dystrophe Epidermolysis bullosa sowie Kindler-Syndrom.", "management": "Rezessiv dystrophe Formen erfordern eine regelmäßige Überwachung auf Hautkrebs, und für die dystrophe EB steht inzwischen eine genbasierte Wundtherapie zur Verfügung.", "evidence": { "gencc": [ "Ambry Genetics", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/epidermolysis-bullosa" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Hypertrophe Kardiomyopathie", "diseases": [ { "mondoId": "MONDO:0005045", "name": "Hypertrophe Kardiomyopathie", "genes": 62, "inheritance": "autosomal-dominant", "description": "Eine Erkrankung, bei der der Herzmuskel ohne erkennbare Ursache verdickt (hypertrophiert) ist. Die Hypertrophie tritt meist asymmetrisch auf und kann mit einer Verengung des linksventrikulären Ausflusstrakts einhergehen.", "management": "Betablocker, Nicht-Dihydropyridin-Kalziumkanalblocker, Vermeidung intensiver körperlicher Belastung, genetische Beratung", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/de/conditions/hypertrophic-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-blistering-of-the-skin", "name": "Abnormal blistering of the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin" }, { "slug": "alopecia-of-scalp", "name": "Absence of scalp hair", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/alopecia-of-scalp" }, { "slug": "asymmetric-septal-hypertrophy", "name": "Asymmetric septal hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/asymmetric-septal-hypertrophy" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "cardiomyocyte-hypertrophy", "name": "Cardiomyocyte hypertrophy", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cardiomyocyte-hypertrophy" }, { "slug": "diffuse-palmoplantar-hyperkeratosis", "name": "Diffuse palmoplantar hyperkeratosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/diffuse-palmoplantar-hyperkeratosis" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "increased-myocardial-glycogen-content", "name": "Increased myocardial glycogen content", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-myocardial-glycogen-content" }, { "slug": "left-ventricular-outflow-tract-obstruction", "name": "Left ventricular outflow tract obstruction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/left-ventricular-outflow-tract-obstruction" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "onychogryphosis-of-toenails", "name": "Overgrowth and curving of toenails", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/onychogryphosis-of-toenails" }, { "slug": "palpitations", "name": "Palpitations", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palpitations" }, { "slug": "hypopigmentation-of-the-skin", "name": "Patchy lightened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin" }, { "slug": "dystrophic-toenail", "name": "Poor toenail formation", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/dystrophic-toenail" }, { "slug": "reduced-left-ventricular-endsystolic-diameter", "name": "Reduced left ventricular endsystolic diameter", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-left-ventricular-endsystolic-diameter" }, { "slug": "dermal-atrophy", "name": "Skin degeneration", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dermal-atrophy" }, { "slug": "sparse-body-hair", "name": "Sparse body hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sparse-body-hair" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "systolic-anterior-motion-of-the-mitral-valve", "name": "Systolic anterior motion of the mitral valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/systolic-anterior-motion-of-the-mitral-valve" } ], "related": [ { "slug": "acadvl", "symbol": "ACADVL", "name": "acyl-CoA dehydrogenase very long chain", "shared": 1, "url": "https://dantelabs.com/de/genes/acadvl" }, { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 1, "url": "https://dantelabs.com/de/genes/actc1" }, { "slug": "alpk3", "symbol": "ALPK3", "name": "alpha kinase 3", "shared": 1, "url": "https://dantelabs.com/de/genes/alpk3" }, { "slug": "braf", "symbol": "BRAF", "name": "B-Raf proto-oncogene, serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/de/genes/braf" }, { "slug": "cd151", "symbol": "CD151", "name": "CD151 molecule (Raph blood group)", "shared": 1, "url": "https://dantelabs.com/de/genes/cd151" }, { "slug": "cdkn1c", "symbol": "CDKN1C", "name": "cyclin dependent kinase inhibitor 1C", "shared": 1, "url": "https://dantelabs.com/de/genes/cdkn1c" }, { "slug": "col17a1", "symbol": "COL17A1", "name": "collagen type XVII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/de/genes/col17a1" }, { "slug": "col7a1", "symbol": "COL7A1", "name": "collagen type VII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/de/genes/col7a1" }, { "slug": "csrp3", "symbol": "CSRP3", "name": "cysteine and glycine rich protein 3", "shared": 1, "url": "https://dantelabs.com/de/genes/csrp3" }, { "slug": "dhh", "symbol": "DHH", "name": "desert hedgehog signaling molecule", "shared": 1, "url": "https://dantelabs.com/de/genes/dhh" }, { "slug": "dhx37", "symbol": "DHX37", "name": "DEAH-box helicase 37", "shared": 1, "url": "https://dantelabs.com/de/genes/dhx37" }, { "slug": "dmpk", "symbol": "DMPK", "name": "DM1 protein kinase", "shared": 1, "url": "https://dantelabs.com/de/genes/dmpk" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }