{ "url": "https://dantelabs.com/pl/genes/alas2", "gene": { "slug": "alas2", "symbol": "ALAS2", "name": "5'-aminolevulinate synthase 2", "hgnc": "HGNC:397", "summary": null, "location": "Xp11.21", "locusType": "gene with protein product", "aliases": [ "ALAS-E" ], "previousSymbols": [ "ASB" ], "ensemblId": "ENSG00000158578", "entrezId": 212, "omim": [ "301300" ], "uniprot": [ "P22557" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 55009055, "end": 55030977, "strand": "-", "ensemblTranscript": "ENST00000650242.1", "refseqTranscript": "NM_000032.5", "ensemblProtein": "ENSP00000497236.1", "refseqProtein": "NP_000023.2", "exons": [ { "start": 55009055, "end": 55009343 }, { "start": 55013486, "end": 55013648 }, { "start": 55014747, "end": 55015015 }, { "start": 55015578, "end": 55015742 }, { "start": 55017486, "end": 55017665 }, { "start": 55020320, "end": 55020504 }, { "start": 55021052, "end": 55021274 }, { "start": 55023757, "end": 55023867 }, { "start": 55024718, "end": 55024840 }, { "start": 55025820, "end": 55026015 }, { "start": 55030942, "end": 55030977 } ], "cds": { "start": 55009180, "end": 55026000 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 55035488, "end": 55057497, "strand": "-" }, "neighbourhood": { "release": "116", "start": 54520016, "end": 55520015, "genes": [ { "symbol": "GNL3L", "ensemblId": "ENSG00000130119", "biotype": "protein_coding", "start": 54529900, "end": 54621565, "strand": "+", "slug": "gnl3l" }, { "symbol": "ITIH6", "ensemblId": "ENSG00000102313", "biotype": "protein_coding", "start": 54748918, "end": 54798255, "strand": "-", "slug": "itih6" }, { "symbol": "MAGED2", "ensemblId": "ENSG00000102316", "biotype": "protein_coding", "start": 54807572, "end": 54816015, "strand": "+", "slug": "maged2" }, { "symbol": "TRO", "ensemblId": "ENSG00000067445", "biotype": "protein_coding", "start": 54920462, "end": 54931436, "strand": "+", "slug": "tro" }, { "symbol": "PFKFB1", "ensemblId": "ENSG00000158571", "biotype": "protein_coding", "start": 54931434, "end": 54994789, "strand": "-", "slug": "pfkfb1" }, { "symbol": "APEX2", "ensemblId": "ENSG00000169188", "biotype": "protein_coding", "start": 55000323, "end": 55009057, "strand": "+", "slug": "apex2" }, { "symbol": "PAGE2B", "ensemblId": "ENSG00000238269", "biotype": "protein_coding", "start": 55028123, "end": 55078913, "strand": "+", "slug": "page2b" }, { "symbol": "PAGE2", "ensemblId": "ENSG00000234068", "biotype": "protein_coding", "start": 55089011, "end": 55092842, "strand": "+", "slug": "page2" }, { "symbol": "VCF2", "ensemblId": "ENSG00000182518", "biotype": "protein_coding", "start": 55143102, "end": 55161310, "strand": "-", "slug": "vcf2" }, { "symbol": "PAGE5", "ensemblId": "ENSG00000158639", "biotype": "protein_coding", "start": 55211094, "end": 55224116, "strand": "+", "slug": "page5" }, { "symbol": "PAGE3", "ensemblId": "ENSG00000204279", "biotype": "protein_coding", "start": 55257591, "end": 55264927, "strand": "-", "slug": "page3" }, { "symbol": "MAGEH1", "ensemblId": "ENSG00000187601", "biotype": "protein_coding", "start": 55452127, "end": 55453566, "strand": "+", "slug": "mageh1" }, { "symbol": "USP51", "ensemblId": "ENSG00000247746", "biotype": "protein_coding", "start": 55484616, "end": 55489874, "strand": "-", "slug": "usp51" } ], "truncated": false }, "reports": [ { "slug": "hepatic-porphyria-disorders", "name": "Porfirie wątrobowe", "diseases": [ { "mondoId": "MONDO:0002520", "name": "Porfiria wątrobowa", "genes": 8, "inheritance": null, "description": "Grupa chorób metabolicznych wynikających z niedoboru jednego z kilku enzymów wątrobowych biorących udział w szlaku biosyntezy hemu. Charakteryzują się nagromadzeniem i zwiększonym wydalaniem porfiryn lub ich prekursorów. Objawy kliniczne obejmują objawy neurologiczne (porfiria ostra przerywana), zmiany skórne spowodowane fotowrażliwością (porfiria skórna późna) lub oba te rodzaje objawów (koproporfiria dziedziczna). Porfirie wątrobowe mogą być dziedziczne lub nabyte w wyniku uszkodzenia tkanki wątrobowej przez substancje toksyczne.", "management": null, "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/hepatic-porphyria-disorders" }, { "slug": "hereditary-sideroblastic-anaemias", "name": "Dziedziczne niedokrwistości syderoblastyczne", "diseases": [ { "mondoId": "MONDO:0020099", "name": "Dziedziczna niedokrwistość syderoblastyczna", "genes": 8, "inheritance": null, "description": "Grupa schorzeń wywoływanych zmianami w genach takich jak ALAS2 i ABCB7 (sprzężone z chromosomem X), SLC25A38, GLRX5, PUS1, YARS2 i TRNT1 (recesywne) oraz HSPA9 (dominujące); niektóre postacie wpływają także na mięśnie, układ nerwowy lub układ odpornościowy.", "management": "Postać sprzężona z chromosomem X, związana z genem ALAS2, często reaguje na witaminę B6 (pirydoksynę), a rozpoznanie kieruje monitorowaniem przeciążenia żelazem oraz pozwala odróżnić te schorzenia od nabytego zespołu mielodysplastycznego.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/hereditary-sideroblastic-anaemias" }, { "slug": "porphyria", "name": "Porfiria", "diseases": [ { "mondoId": "MONDO:0037939", "name": "Porfiria", "genes": 9, "inheritance": null, "description": "Porfiria to grupa chorób, w których gromadzą się substancje zwane porfirynami, negatywnie wpływające na skórę lub układ nerwowy. Większość typów ma podłoże dziedziczne, jednak porfiria skórna późna może również wynikać z nadmiaru żelaza w wątrobie, zakażenia wirusem zapalenia wątroby typu C, nadużywania alkoholu lub zakażenia HIV/AIDS.", "management": "Zapobieganie atakom poprzez unikanie czynników wyzwalających, dożylne podawanie glukozy lub hemin w ostrych atakach, terapia interferencją RNA (givosiran), poradnictwo genetyczne", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/porphyria" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-iron-homeostasis", "name": "Abnormality of iron homeostasis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-iron-homeostasis" }, { "slug": "anemia-of-inadequate-production", "name": "Anemia of inadequate production", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anemia-of-inadequate-production" }, { "slug": "anemic-pallor", "name": "Anemic pallor", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anemic-pallor" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "cholelithiasis", "name": "Gallstones", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cholelithiasis" }, { "slug": "glucose-intolerance", "name": "Glucose intolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/glucose-intolerance" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "hypochromic-microcytic-anemia", "name": "Hypochromic microcytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypochromic-microcytic-anemia" }, { "slug": "increased-erythrocyte-protoporphyrin-concentration", "name": "Increased erythrocyte protoporphyrin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-erythrocyte-protoporphyrin-concentration" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "iron-deficiency-anemia", "name": "Iron deficiency anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iron-deficiency-anemia" }, { "slug": "asthenia", "name": "Lack of energy and strength", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/asthenia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "macrocytic-anemia", "name": "Macrocytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/macrocytic-anemia" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "pallor", "name": "Paleness", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pallor" }, { "slug": "hyperpigmentation-of-the-skin", "name": "Patchy darkened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin" }, { "slug": "cutaneous-photosensitivity", "name": "Photosensitive skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/cutaneous-photosensitivity" }, { "slug": "sideroblastic-anemia", "name": "Sideroblastic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sideroblastic-anemia" } ], "related": [ { "slug": "alad", "symbol": "ALAD", "name": "aminolevulinate dehydratase", "shared": 2, "url": "https://dantelabs.com/pl/genes/alad" }, { "slug": "clpx", "symbol": "CLPX", "name": "caseinolytic mitochondrial matrix peptidase chaperone subunit X", "shared": 2, "url": "https://dantelabs.com/pl/genes/clpx" }, { "slug": "cpox", "symbol": "CPOX", "name": "coproporphyrinogen oxidase", "shared": 2, "url": "https://dantelabs.com/pl/genes/cpox" }, { "slug": "fech", "symbol": "FECH", "name": "ferrochelatase", "shared": 2, "url": "https://dantelabs.com/pl/genes/fech" }, { "slug": "hmbs", "symbol": "HMBS", "name": "hydroxymethylbilane synthase", "shared": 2, "url": "https://dantelabs.com/pl/genes/hmbs" }, { "slug": "ppox", "symbol": "PPOX", "name": "protoporphyrinogen oxidase", "shared": 2, "url": "https://dantelabs.com/pl/genes/ppox" }, { "slug": "urod", "symbol": "UROD", "name": "uroporphyrinogen decarboxylase", "shared": 2, "url": "https://dantelabs.com/pl/genes/urod" }, { "slug": "abcb7", "symbol": "ABCB7", "name": "ATP binding cassette subfamily B member 7", "shared": 1, "url": "https://dantelabs.com/pl/genes/abcb7" }, { "slug": "glrx5", "symbol": "GLRX5", "name": "glutaredoxin 5", "shared": 1, "url": "https://dantelabs.com/pl/genes/glrx5" }, { "slug": "hspa9", "symbol": "HSPA9", "name": "heat shock protein family A (Hsp70) member 9", "shared": 1, "url": "https://dantelabs.com/pl/genes/hspa9" }, { "slug": "pus1", "symbol": "PUS1", "name": "pseudouridine synthase 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/pus1" }, { "slug": "slc25a38", "symbol": "SLC25A38", "name": "solute carrier family 25 member 38", "shared": 1, "url": "https://dantelabs.com/pl/genes/slc25a38" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }