{ "url": "https://dantelabs.com/ko/genes/slc25a3", "gene": { "slug": "slc25a3", "symbol": "SLC25A3", "name": "solute carrier family 25 member 3", "hgnc": "HGNC:10989", "summary": null, "location": "12q23.1", "locusType": "gene with protein product", "aliases": [ "PiC", "PTP" ], "previousSymbols": [ "PHC" ], "ensemblId": "ENSG00000075415", "entrezId": 5250, "omim": [ "600370" ], "uniprot": [ "Q00325" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 98593686, "end": 98606367, "strand": "+", "ensemblTranscript": "ENST00000552981.6", "refseqTranscript": "NM_002635.4", "ensemblProtein": "ENSP00000448708.2", "refseqProtein": "NP_002626.1", "exons": [ { "start": 98593686, "end": 98593740 }, { "start": 98593975, "end": 98594135 }, { "start": 98595727, "end": 98595848 }, { "start": 98597856, "end": 98598035 }, { "start": 98598522, "end": 98598703 }, { "start": 98599955, "end": 98600127 }, { "start": 98601171, "end": 98601281 }, { "start": 98601368, "end": 98606367 } ], "cds": { "start": 98593979, "end": 98601528 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 98987369, "end": 98995946, "strand": "+" }, "neighbourhood": { "release": "116", "start": 98100027, "end": 99100026, "genes": [ { "symbol": "TMPO", "ensemblId": "ENSG00000120802", "biotype": "protein_coding", "start": 98515483, "end": 98550351, "strand": "+", "slug": "tmpo" }, { "symbol": "IKBIP", "ensemblId": "ENSG00000166130", "biotype": "protein_coding", "start": 98613405, "end": 98645113, "strand": "-", "slug": "ikbip" }, { "symbol": "APAF1", "ensemblId": "ENSG00000120868", "biotype": "protein_coding", "start": 98645149, "end": 98735433, "strand": "+", "slug": "apaf1" }, { "symbol": "ANKS1B", "ensemblId": "ENSG00000185046", "biotype": "protein_coding", "start": 98726457, "end": 99984964, "strand": "-", "slug": "anks1b" } ], "truncated": false }, "reports": [ { "slug": "hypertrophic-cardiomyopathy", "name": "비대성 심근병증", "diseases": [ { "mondoId": "MONDO:0005045", "name": "비대성 심근병증", "genes": 62, "inheritance": "autosomal-dominant", "description": "명확한 원인 없이 심근이 비대해지는 질환입니다. 비대는 일반적으로 비대칭적으로 나타나며, 좌심실 유출로의 폐쇄를 동반할 수 있습니다.", "management": "베타차단제, 비이드히드로피리딘계 칼슘채널차단제, 활동 제한, 유전 상담", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/ko/conditions/hypertrophic-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-mitochondrial-shape", "name": "Abnormal mitochondrial shape", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/abnormal-mitochondrial-shape" }, { "slug": "abnormality-of-the-mitochondrion", "name": "Abnormality of the mitochondrion", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-mitochondrion" }, { "slug": "cyanosis", "name": "Blue discoloration of the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cyanosis" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "low-output-congestive-heart-failure", "name": "Low-output congestive heart failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-output-congestive-heart-failure" }, { "slug": "metabolic-acidosis", "name": "Metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/metabolic-acidosis" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-insufficiency" } ], "related": [ { "slug": "acadvl", "symbol": "ACADVL", "name": "acyl-CoA dehydrogenase very long chain", "shared": 1, "url": "https://dantelabs.com/ko/genes/acadvl" }, { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/actc1" }, { "slug": "alpk3", "symbol": "ALPK3", "name": "alpha kinase 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/alpk3" }, { "slug": "braf", "symbol": "BRAF", "name": "B-Raf proto-oncogene, serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/ko/genes/braf" }, { "slug": "cdkn1c", "symbol": "CDKN1C", "name": "cyclin dependent kinase inhibitor 1C", "shared": 1, "url": "https://dantelabs.com/ko/genes/cdkn1c" }, { "slug": "csrp3", "symbol": "CSRP3", "name": "cysteine and glycine rich protein 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/csrp3" }, { "slug": "dhh", "symbol": "DHH", "name": "desert hedgehog signaling molecule", "shared": 1, "url": "https://dantelabs.com/ko/genes/dhh" }, { "slug": "dhx37", "symbol": "DHX37", "name": "DEAH-box helicase 37", "shared": 1, "url": "https://dantelabs.com/ko/genes/dhx37" }, { "slug": "dmpk", "symbol": "DMPK", "name": "DM1 protein kinase", "shared": 1, "url": "https://dantelabs.com/ko/genes/dmpk" }, { "slug": "erf", "symbol": "ERF", "name": "ETS2 repressor factor", "shared": 1, "url": "https://dantelabs.com/ko/genes/erf" }, { "slug": "etfa", "symbol": "ETFA", "name": "electron transfer flavoprotein subunit alpha", "shared": 1, "url": "https://dantelabs.com/ko/genes/etfa" }, { "slug": "etfb", "symbol": "ETFB", "name": "electron transfer flavoprotein subunit beta", "shared": 1, "url": "https://dantelabs.com/ko/genes/etfb" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }