{ "url": "https://dantelabs.com/de/genes/mcee", "gene": { "slug": "mcee", "symbol": "MCEE", "name": "methylmalonyl-CoA epimerase", "hgnc": "HGNC:16732", "summary": null, "location": "2p13.3", "locusType": "gene with protein product", "aliases": [ "GLOD2", "MCE", "MMCE" ], "previousSymbols": [], "ensemblId": "ENSG00000124370", "entrezId": 84693, "omim": [ "608419" ], "uniprot": [ "Q96PE7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 71109687, "end": 71130229, "strand": "-", "ensemblTranscript": "ENST00000244217.6", "refseqTranscript": "NM_032601.4", "ensemblProtein": "ENSP00000244217.5", "refseqProtein": "NP_115990.3", "exons": [ { "start": 71109687, "end": 71110122 }, { "start": 71124206, "end": 71124543 }, { "start": 71130180, "end": 71130229 } ], "cds": { "start": 71109970, "end": 71130219 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 71336814, "end": 71357369, "strand": "-" }, "neighbourhood": { "release": "116", "start": 70619958, "end": 71619957, "genes": [ { "symbol": "ADD2", "ensemblId": "ENSG00000075340", "biotype": "protein_coding", "start": 70607618, "end": 70768499, "strand": "-", "slug": "add2" }, { "symbol": "FIGLA", "ensemblId": "ENSG00000183733", "biotype": "protein_coding", "start": 70777310, "end": 70790643, "strand": "-", "slug": "figla" }, { "symbol": "CLEC4F", "ensemblId": "ENSG00000152672", "biotype": "protein_coding", "start": 70808643, "end": 70820601, "strand": "-", "slug": "clec4f" }, { "symbol": "CD207", "ensemblId": "ENSG00000116031", "biotype": "protein_coding", "start": 70830000, "end": 70835822, "strand": "-", "slug": "cd207" }, { "symbol": "VAX2", "ensemblId": "ENSG00000116035", "biotype": "protein_coding", "start": 70900488, "end": 70965431, "strand": "+", "slug": "vax2" }, { "symbol": "ATP6V1B1", "ensemblId": "ENSG00000116039", "biotype": "protein_coding", "start": 70935771, "end": 70965431, "strand": "+", "slug": "atp6v1b1" }, { "symbol": "", "ensemblId": "ENSG00000258881", "biotype": "protein_coding", "start": 70939318, "end": 70995336, "strand": "-" }, { "symbol": "TEX261", "ensemblId": "ENSG00000144043", "biotype": "protein_coding", "start": 70968325, "end": 70994873, "strand": "-", "slug": "tex261" }, { "symbol": "ANKRD53", "ensemblId": "ENSG00000144031", "biotype": "protein_coding", "start": 70978380, "end": 70985967, "strand": "+", "slug": "ankrd53" }, { "symbol": "NAGK", "ensemblId": "ENSG00000124357", "biotype": "protein_coding", "start": 71064344, "end": 71079808, "strand": "+", "slug": "nagk" }, { "symbol": "MPHOSPH10", "ensemblId": "ENSG00000124383", "biotype": "protein_coding", "start": 71130305, "end": 71150101, "strand": "+", "slug": "mphosph10" }, { "symbol": "PAIP2B", "ensemblId": "ENSG00000124374", "biotype": "protein_coding", "start": 71181702, "end": 71227112, "strand": "-", "slug": "paip2b" }, { "symbol": "ZNF638", "ensemblId": "ENSG00000075292", "biotype": "protein_coding", "start": 71276537, "end": 71437183, "strand": "+", "slug": "znf638" }, { "symbol": "DYSF", "ensemblId": "ENSG00000135636", "biotype": "protein_coding", "start": 71453495, "end": 71686763, "strand": "+", "slug": "dysf" } ], "truncated": false }, "reports": [ { "slug": "methylmalonic-and-propionic-acidemia", "name": "Methylmalonazidurie & Propionazidämie", "diseases": [ { "mondoId": "MONDO:0002012", "name": "Methylmalonazidurie", "genes": 12, "inheritance": "autosomal-recessive", "description": "Verursacht durch Varianten in MMUT, MMAA, MMAB, MCEE und verwandten Genen des Cobalamin-Stoffwechsels, die Erbrechen, Trinkschwäche, metabolische Krisen, Entwicklungsstörungen und Nierenerkrankungen auslösen können.", "management": "Das Wissen ermöglicht eine spezialisierte Ernährungsbehandlung, Carnitin, Vitamin B12 bei behandlungsempfindlichen Formen sowie einen Notfallplan, wodurch das Risiko von Krisen sinkt.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/methylmalonic-and-propionic-acidemia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "dehydration", "name": "Dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dehydration" }, { "slug": "elevated-circulating-palmitoleylcarnitine-concentration", "name": "Elevated circulating palmitoleylcarnitine concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-palmitoleylcarnitine-concentration" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "ketonuria", "name": "Ketonuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ketonuria" }, { "slug": "metabolic-acidosis", "name": "Metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/metabolic-acidosis" }, { "slug": "methylmalonic-aciduria", "name": "Methylmalonic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/methylmalonic-aciduria" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" } ], "related": [ { "slug": "abcd4", "symbol": "ABCD4", "name": "ATP binding cassette subfamily D member 4", "shared": 1, "url": "https://dantelabs.com/de/genes/abcd4" }, { "slug": "acsf3", "symbol": "ACSF3", "name": "acyl-CoA synthetase family member 3", "shared": 1, "url": "https://dantelabs.com/de/genes/acsf3" }, { "slug": "cd320", "symbol": "CD320", "name": "CD320 molecule", "shared": 1, "url": "https://dantelabs.com/de/genes/cd320" }, { "slug": "hcfc1", "symbol": "HCFC1", "name": "host cell factor C1", "shared": 1, "url": "https://dantelabs.com/de/genes/hcfc1" }, { "slug": "lmbrd1", "symbol": "LMBRD1", "name": "LMBR1 domain containing 1", "shared": 1, "url": "https://dantelabs.com/de/genes/lmbrd1" }, { "slug": "mmaa", "symbol": "MMAA", "name": "metabolism of cobalamin associated A", "shared": 1, "url": "https://dantelabs.com/de/genes/mmaa" }, { "slug": "mmab", "symbol": "MMAB", "name": "metabolism of cobalamin associated B", "shared": 1, "url": "https://dantelabs.com/de/genes/mmab" }, { "slug": "mmachc", "symbol": "MMACHC", "name": "metabolism of cobalamin associated C", "shared": 1, "url": "https://dantelabs.com/de/genes/mmachc" }, { "slug": "mmadhc", "symbol": "MMADHC", "name": "metabolism of cobalamin associated D", "shared": 1, "url": "https://dantelabs.com/de/genes/mmadhc" }, { "slug": "mmut", "symbol": "MMUT", "name": "methylmalonyl-CoA mutase", "shared": 1, "url": "https://dantelabs.com/de/genes/mmut" }, { "slug": "prdx1", "symbol": "PRDX1", "name": "peroxiredoxin 1", "shared": 1, "url": "https://dantelabs.com/de/genes/prdx1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }