{ "url": "https://dantelabs.com/da/genes/sar1b", "gene": { "slug": "sar1b", "symbol": "SAR1B", "name": "secretion associated Ras related GTPase 1B", "hgnc": "HGNC:10535", "summary": null, "location": "5q31.1", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "SARA2" ], "ensemblId": "ENSG00000152700", "entrezId": 51128, "omim": [ "607690" ], "uniprot": [ "Q9Y6B6" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "5", "start": 134601149, "end": 134632828, "strand": "-", "ensemblTranscript": "ENST00000402673.7", "refseqTranscript": "NM_016103.4", "ensemblProtein": "ENSP00000385432.2", "refseqProtein": "NP_057187.1", "exons": [ { "start": 134601149, "end": 134607066 }, { "start": 134608372, "end": 134608503 }, { "start": 134609571, "end": 134609674 }, { "start": 134612691, "end": 134612756 }, { "start": 134620933, "end": 134621052 }, { "start": 134623962, "end": 134624037 }, { "start": 134632728, "end": 134632828 } ], "cds": { "start": 134606950, "end": 134624019 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "5", "start": 133936834, "end": 133984961, "strand": "-" }, "neighbourhood": { "release": "116", "start": 134116989, "end": 135116988, "genes": [ { "symbol": "TCF7", "ensemblId": "ENSG00000081059", "biotype": "protein_coding", "start": 134114645, "end": 134151865, "strand": "+", "slug": "tcf7" }, { "symbol": "SKP1", "ensemblId": "ENSG00000113558", "biotype": "protein_coding", "start": 134145693, "end": 134177911, "strand": "-", "slug": "skp1" }, { "symbol": "", "ensemblId": "ENSG00000272772", "biotype": "protein_coding", "start": 134157088, "end": 134225861, "strand": "-" }, { "symbol": "PPP2CA", "ensemblId": "ENSG00000113575", "biotype": "protein_coding", "start": 134193967, "end": 134226219, "strand": "-", "slug": "ppp2ca" }, { "symbol": "", "ensemblId": "ENSG00000273345", "biotype": "protein_coding", "start": 134196905, "end": 134371044, "strand": "-" }, { "symbol": "CDKL3", "ensemblId": "ENSG00000006837", "biotype": "protein_coding", "start": 134286350, "end": 134371047, "strand": "-", "slug": "cdkl3" }, { "symbol": "UBE2B", "ensemblId": "ENSG00000119048", "biotype": "protein_coding", "start": 134371174, "end": 134394447, "strand": "+", "slug": "ube2b" }, { "symbol": "XTBD1", "ensemblId": "ENSG00000237190", "biotype": "protein_coding", "start": 134373327, "end": 134411902, "strand": "-", "slug": "xtbd1" }, { "symbol": "JADE2", "ensemblId": "ENSG00000043143", "biotype": "protein_coding", "start": 134523979, "end": 134583230, "strand": "+", "slug": "jade2" }, { "symbol": "SEC24A", "ensemblId": "ENSG00000113615", "biotype": "protein_coding", "start": 134648587, "end": 134727911, "strand": "+", "slug": "sec24a" }, { "symbol": "CAMLG", "ensemblId": "ENSG00000164615", "biotype": "protein_coding", "start": 134737608, "end": 134752705, "strand": "+", "slug": "camlg" }, { "symbol": "DDX46", "ensemblId": "ENSG00000145833", "biotype": "protein_coding", "start": 134758771, "end": 134831121, "strand": "+", "slug": "ddx46" }, { "symbol": "", "ensemblId": "ENSG00000310592", "biotype": "protein_coding", "start": 134818916, "end": 134855133, "strand": "+" }, { "symbol": "C5orf24", "ensemblId": "ENSG00000181904", "biotype": "protein_coding", "start": 134845680, "end": 134859735, "strand": "+", "slug": "c5orf24" }, { "symbol": "TXNDC15", "ensemblId": "ENSG00000113621", "biotype": "protein_coding", "start": 134874308, "end": 134902952, "strand": "+", "slug": "txndc15" }, { "symbol": "PCBD2", "ensemblId": "ENSG00000132570", "biotype": "protein_coding", "start": 134905039, "end": 135007959, "strand": "+", "slug": "pcbd2" }, { "symbol": "CATSPER3", "ensemblId": "ENSG00000152705", "biotype": "protein_coding", "start": 134967907, "end": 135011696, "strand": "+", "slug": "catsper3" }, { "symbol": "PITX1", "ensemblId": "ENSG00000069011", "biotype": "protein_coding", "start": 135027734, "end": 135034813, "strand": "-", "slug": "pitx1" } ], "truncated": false }, "reports": [ { "slug": "hereditary-hypolipoproteinemias", "name": "Arvelige hypolipoproteinæmier", "diseases": [ { "mondoId": "MONDO:0017774", "name": "Hypobetalipoproteinæmi", "genes": 4, "inheritance": "autosomal-recessive", "description": "Omfatter abetalipoproteinæmi (MTTP), familiær hypobetalipoproteinæmi (APOB, ANGPTL3) og chylomikron-retentionssygdom (SAR1B). Svære former giver fedtmalabsorption og E-vitaminmangel, som kan føre til skader på nerver og nethinde, mens milde bærerformer blot kan sænke LDL-kolesterol og øge leverfedt.", "management": "Viden gør det muligt at spise en fedtfattig kost med høje doser E-vitamin og andre fedtopløselige vitaminer ved de svære former, hvilket kan forebygge eller begrænse skader på nerver og øjne.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/da/conditions/hereditary-hypolipoproteinemias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-distention", "name": "Abdominal bloating", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abdominal-distention" }, { "slug": "abnormality-of-vitamin-metabolism", "name": "Abnormality of vitamin metabolism", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-vitamin-metabolism" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "acanthocytosis", "name": "Acanthocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/acanthocytosis" }, { "slug": "accumulation-of-lipid-droplets-in-small-bowel-enterocytes", "name": "Accumulation of lipid droplets in small-bowel enterocytes", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/accumulation-of-lipid-droplets-in-small-bowel-enterocytes" }, { "slug": "hypocholesterolemia", "name": "Decreased circulating cholesterol level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypocholesterolemia" }, { "slug": "decreased-circulating-ldl-c-concentration", "name": "Decreased circulating LDL-C concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/decreased-circulating-ldl-c-concentration" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "diminished-deep-tendon-reflex", "name": "Diminished deep tendon reflex", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex" }, { "slug": "emg-myopathic-abnormalities", "name": "EMG: myopathic abnormalities", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "steatorrhea", "name": "Fat in feces", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/steatorrhea" }, { "slug": "fat-malabsorption", "name": "Fat malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fat-malabsorption" }, { "slug": "hepatic-steatosis", "name": "Fatty infiltration of liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-steatosis" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "impaired-proprioception", "name": "Impaired proprioception", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/impaired-proprioception" }, { "slug": "impaired-vibratory-sensation", "name": "Impaired vibratory sensation", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/impaired-vibratory-sensation" }, { "slug": "increased-hepatocellular-lipid-droplets", "name": "Increased hepatocellular lipid droplets", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-hepatocellular-lipid-droplets" }, { "slug": "hypertriglyceridemia", "name": "Increased plasma triglycerides", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypertriglyceridemia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "slug": "hypotriglyceridemia", "name": "Low blood triglyceride levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypotriglyceridemia" }, { "slug": "malnutrition", "name": "Malnutrition", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/malnutrition" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "retinopathy", "name": "Noninflammatory retina disease", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/retinopathy" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "angptl3", "symbol": "ANGPTL3", "name": "angiopoietin like 3", "shared": 1, "url": "https://dantelabs.com/da/genes/angptl3" }, { "slug": "apob", "symbol": "APOB", "name": "apolipoprotein B", "shared": 1, "url": "https://dantelabs.com/da/genes/apob" }, { "slug": "mttp", "symbol": "MTTP", "name": "microsomal triglyceride transfer protein", "shared": 1, "url": "https://dantelabs.com/da/genes/mttp" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }