{ "url": "https://dantelabs.com/sv/genes/clpx", "gene": { "slug": "clpx", "symbol": "CLPX", "name": "caseinolytic mitochondrial matrix peptidase chaperone subunit X", "hgnc": "HGNC:2088", "summary": null, "location": "15q22.31", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000166855", "entrezId": 10845, "omim": [ "615611" ], "uniprot": [ "O76031" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 65148219, "end": 65185342, "strand": "-", "ensemblTranscript": "ENST00000300107.7", "refseqTranscript": "NM_006660.5", "ensemblProtein": "ENSP00000300107.3", "refseqProtein": "NP_006651.2", "exons": [ { "start": 65148219, "end": 65150913 }, { "start": 65152430, "end": 65152536 }, { "start": 65153547, "end": 65153639 }, { "start": 65154782, "end": 65155081 }, { "start": 65155692, "end": 65155856 }, { "start": 65156844, "end": 65156932 }, { "start": 65157746, "end": 65157910 }, { "start": 65158575, "end": 65158751 }, 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"symbol": "RASL12", "ensemblId": "ENSG00000103710", "biotype": "protein_coding", "start": 65053337, "end": 65076690, "strand": "-", "slug": "rasl12" }, { "symbol": "KBTBD13", "ensemblId": "ENSG00000234438", "biotype": "protein_coding", "start": 65076746, "end": 65079948, "strand": "+", "slug": "kbtbd13" }, { "symbol": "UBAP1L", "ensemblId": "ENSG00000246922", "biotype": "protein_coding", "start": 65091766, "end": 65115200, "strand": "-", "slug": "ubap1l" }, { "symbol": "PDCD7", "ensemblId": "ENSG00000090470", "biotype": "protein_coding", "start": 65117379, "end": 65133836, "strand": "-", "slug": "pdcd7" }, { "symbol": "CILP", "ensemblId": "ENSG00000138615", "biotype": "protein_coding", "start": 65194760, "end": 65211491, "strand": "-", "slug": "cilp" }, { "symbol": "PARP16", "ensemblId": "ENSG00000138617", "biotype": "protein_coding", "start": 65231398, "end": 65300618, "strand": "-", "slug": "parp16" }, { "symbol": "IGDCC3", "ensemblId": "ENSG00000174498", "biotype": "protein_coding", 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"truncated": false }, "reports": [ { "slug": "hepatic-porphyria-disorders", "name": "Hepatiska porfyrisjukdomar", "diseases": [ { "mondoId": "MONDO:0002520", "name": "Hepatisk porfyri", "genes": 8, "inheritance": null, "description": "En grupp metabola sjukdomar orsakade av brist på något av flera leverenzymer i hemens biosyntetiska väg. De kännetecknas av ansamling och ökad utsöndring av porfyriner eller deras föregångare. Kliniska symtom omfattar neurologiska besvär (akut intermittent porfyri), hudförändringar orsakade av ljuskänslighet (porphyria cutanea tarda) eller båda (hereditär koproporfyri). Hepatiska porfyrier kan vara ärftliga eller förvärvade till följd av toxisk påverkan på levervävnaden.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/hepatic-porphyria-disorders" }, { "slug": "porphyria", "name": "Porfyri", "diseases": [ { "mondoId": "MONDO:0037939", "name": "Porfyri", "genes": 9, "inheritance": null, "description": "Porfyri är en grupp sjukdomar där ämnen som kallas porfyriner ansamlas och påverkar hud eller nervsystem negativt. De flesta typer är ärftliga, men porphyria cutanea tarda kan också orsakas av ökat järn i levern, hepatit C, alkohol eller hiv/aids.", "management": "Attackprevention genom undvikande av utlösande faktorer, intravenös glukos eller hemin vid akuta attacker, RNA-interferensbehandling (givosiran), genetisk rådgivning", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/porphyria" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "increased-erythrocyte-protoporphyrin-concentration", "name": "Increased erythrocyte protoporphyrin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-erythrocyte-protoporphyrin-concentration" }, { "slug": "iron-deficiency-anemia", "name": "Iron deficiency anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/iron-deficiency-anemia" }, { "slug": "cutaneous-photosensitivity", "name": "Photosensitive skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cutaneous-photosensitivity" } ], "related": [ { "slug": "alad", "symbol": "ALAD", "name": "aminolevulinate dehydratase", "shared": 2, "url": "https://dantelabs.com/sv/genes/alad" }, { "slug": "alas2", "symbol": "ALAS2", "name": "5'-aminolevulinate synthase 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/alas2" }, { "slug": "cpox", "symbol": "CPOX", "name": "coproporphyrinogen oxidase", "shared": 2, "url": "https://dantelabs.com/sv/genes/cpox" }, { "slug": "fech", "symbol": "FECH", "name": "ferrochelatase", "shared": 2, "url": "https://dantelabs.com/sv/genes/fech" }, { "slug": "hmbs", "symbol": "HMBS", "name": "hydroxymethylbilane synthase", "shared": 2, "url": "https://dantelabs.com/sv/genes/hmbs" }, { "slug": "ppox", "symbol": "PPOX", "name": "protoporphyrinogen oxidase", "shared": 2, "url": "https://dantelabs.com/sv/genes/ppox" }, { "slug": "urod", "symbol": "UROD", "name": "uroporphyrinogen decarboxylase", "shared": 2, "url": "https://dantelabs.com/sv/genes/urod" }, { "slug": "uros", "symbol": "UROS", "name": "uroporphyrinogen III synthase", "shared": 1, "url": "https://dantelabs.com/sv/genes/uros" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }