{ "url": "https://dantelabs.com/ko/genes/cers3", "gene": { "slug": "cers3", "symbol": "CERS3", "name": "ceramide synthase 3", "hgnc": "HGNC:23752", "summary": null, "location": "15q26.3", "locusType": "gene with protein product", "aliases": [ "MGC27091" ], "previousSymbols": [ "LASS3" ], "ensemblId": "ENSG00000154227", "entrezId": 204219, "omim": [ "615276" ], "uniprot": [ "Q8IU89" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 100400395, "end": 100528950, "strand": "-", "ensemblTranscript": "ENST00000679737.1", "refseqTranscript": "NM_001378789.1", "ensemblProtein": "ENSP00000506641.1", "refseqProtein": "NP_001365718.1", "exons": [ { "start": 100400395, "end": 100402865 }, { "start": 100455893, "end": 100456046 }, { "start": 100469378, "end": 100469484 }, { "start": 100472924, "end": 100473052 }, { "start": 100476086, "end": 100476178 }, { "start": 100479428, "end": 100479478 }, { "start": 100479989, "end": 100480046 }, { "start": 100484550, "end": 100484668 }, { "start": 100490817, "end": 100490931 }, { "start": 100501677, "end": 100501850 }, { "start": 100521667, "end": 100521756 }, { "start": 100528813, "end": 100528950 } ], "cds": { "start": 100402713, "end": 100501849 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "15", "start": 100940600, "end": 101085200, "strand": "-" }, "neighbourhood": { "release": "116", "start": 99964673, "end": 100964672, "genes": [ { "symbol": "ADAMTS17", "ensemblId": "ENSG00000140470", "biotype": "protein_coding", "start": 99971437, "end": 100342005, "strand": "-", "slug": "adamts17" }, { "symbol": "LINS1", "ensemblId": "ENSG00000140471", "biotype": "protein_coding", "start": 100559369, "end": 100603230, "strand": "-", "slug": "lins1" }, { "symbol": "ASB7", "ensemblId": "ENSG00000183475", "biotype": "protein_coding", "start": 100602518, "end": 100651703, "strand": "+", "slug": "asb7" }, { "symbol": "ALDH1A3", "ensemblId": "ENSG00000184254", "biotype": "protein_coding", "start": 100861924, "end": 100916760, "strand": "+", "slug": "aldh1a3" }, { "symbol": "LRRK1", "ensemblId": "ENSG00000154237", "biotype": "protein_coding", "start": 100918893, "end": 101078257, "strand": "+", "slug": "lrrk1" } ], "truncated": false }, "reports": [ { "slug": "inherited-ichthyoses", "name": "유전성 어린선(어린선증)", "diseases": [ { "mondoId": "MONDO:0017265", "name": "상염색체 열성 선천성 어린선", "genes": 15, "inheritance": "autosomal-recessive", "description": "할리퀸 어린선과 판상 어린선을 포함하는 열성 어린선 질환군으로, 보통 출생 시 나타나며 종종 콜로디온막이 함께 나타납니다.", "management": "조기 진단은 신생아 관리, 보습제 및 각질용해제 사용 요법, 열에 대한 내성 저하에 따른 주의사항을 안내하는 데 도움이 됩니다.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/inherited-ichthyoses" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-nail-morphology", "name": "Abnormality of the nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-nail-morphology" }, { "slug": "congenital-nonbullous-ichthyosiform-erythroderma", "name": "Congenital nonbullous ichthyosiform erythroderma", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/congenital-nonbullous-ichthyosiform-erythroderma" }, { "slug": "keratitis", "name": "Corneal inflammation", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/keratitis" }, { "slug": "corneal-erosion", "name": "Damage to outer layer of the cornea of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/corneal-erosion" }, { "slug": "hypohidrosis", "name": "Decreased ability to sweat", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypohidrosis" }, { "slug": "ectropion", "name": "Everted eyelid", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ectropion" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hypergranulosis", "name": "Hypergranulosis", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hypergranulosis" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "ichthyosis", "name": "Ichthyosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ichthyosis" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "orthokeratosis", "name": "Orthokeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/orthokeratosis" }, { "slug": "eclabion", "name": "Outward turned lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/eclabion" }, { "slug": "palmar-hyperlinearity", "name": "Palmar hyperlinearity", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/palmar-hyperlinearity" }, { "slug": "erythroderma", "name": "Red scaly skin caused by inflammatory skin disease", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/erythroderma" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "palmoplantar-keratoderma", "name": "Thickening of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palmoplantar-keratoderma" }, { "slug": "epidermal-acanthosis", "name": "Thickening of upper layer of skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epidermal-acanthosis" } ], "related": [ { "slug": "abca12", "symbol": "ABCA12", "name": "ATP binding cassette subfamily A member 12", "shared": 1, "url": "https://dantelabs.com/ko/genes/abca12" }, { "slug": "alox12b", "symbol": "ALOX12B", "name": "arachidonate 12-lipoxygenase, 12R type", "shared": 1, "url": "https://dantelabs.com/ko/genes/alox12b" }, { "slug": "aloxe3", "symbol": "ALOXE3", "name": "arachidonate epidermal lipoxygenase 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/aloxe3" }, { "slug": "csta", "symbol": "CSTA", "name": "cystatin A", "shared": 1, "url": "https://dantelabs.com/ko/genes/csta" }, { "slug": "cyp4f22", "symbol": "CYP4F22", "name": "cytochrome P450 family 4 subfamily F member 22", "shared": 1, "url": "https://dantelabs.com/ko/genes/cyp4f22" }, { "slug": "krt2", "symbol": "KRT2", "name": "keratin 2", "shared": 1, "url": "https://dantelabs.com/ko/genes/krt2" }, { "slug": "lipn", "symbol": "LIPN", "name": "lipase family member N", "shared": 1, "url": "https://dantelabs.com/ko/genes/lipn" }, { "slug": "nipal4", "symbol": "NIPAL4", "name": "NIPA like domain containing 4", "shared": 1, "url": "https://dantelabs.com/ko/genes/nipal4" }, { "slug": "pnpla1", "symbol": "PNPLA1", "name": "patatin like domain 1, omega-hydroxyceramide transacylase", "shared": 1, "url": "https://dantelabs.com/ko/genes/pnpla1" }, { "slug": "sdr9c7", "symbol": "SDR9C7", "name": "short chain dehydrogenase/reductase family 9C member 7", "shared": 1, "url": "https://dantelabs.com/ko/genes/sdr9c7" }, { "slug": "serpinb8", "symbol": "SERPINB8", "name": "serpin family B member 8", "shared": 1, "url": "https://dantelabs.com/ko/genes/serpinb8" }, { "slug": "st14", "symbol": "ST14", "name": "ST14 transmembrane serine protease matriptase", "shared": 1, "url": "https://dantelabs.com/ko/genes/st14" } ], "sources": { "bundleId": "2026.10.18-e609d43e", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }