SCYL1BP1 antibody
- Known as:
- SCYL1BP1 (anti-)
- Catalog number:
- orb100747
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- SCYL1BP1 antibody
Related genes to: SCYL1BP1 antibody
- Gene:
- GORAB NIH gene
- Name:
- golgin, RAB6 interacting
- Previous symbol:
- SCYL1BP1
- Synonyms:
- FLJ11752, NTKL-BP1, GO
- Chromosome:
- 1q24.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-05-19
- Date modifiied:
- 2016-04-06
Related products to: SCYL1BP1 antibody
Related articles to: SCYL1BP1 antibody
- Polygenic scores (PGSs) stratify disease risk but often fail to capture individual variation. "Misaligned" individuals, whose observed phenotypes deviate from their genetically expected values based on PGS, provide a powerful model for identifying factors beyond common-variant effects, including additional genetic factors. Here, we apply misalignment classification and enrichment testing frameworks to seven continuous traits and three diseases, assessing whether misaligned individuals in the UK Biobank are enriched for rare (minor-allele frequency [MAF] <0.1%) damaging genetic variation. We identified significant enrichment of predicted loss-of-function (pLoF) variants in COPB2 and GORAB among individuals with lower-than-expected bone mineral density. Regarding stature, shorter-than-expected individuals were enriched for pLoF variants in ACAN and IGF1, while taller-than-expected individuals showed enrichment for damaging missense variants in FBN1. Transitioning from validation to discovery, we performed an exome-wide scan for genes associated with misalignment and identified 74 significant genes, including KANK1, a gene which may have a protective role against primary ovarian insufficiency, and ACSL6, a lipid metabolism gene where damaging missense variation was associated with lower-than-expected BMI. For diseases, results supported a liability threshold model involving counteracting common and rare variant effects. Diagnosed type 2 diabetes mellitus patients with rare pathogenic variants in HNF1A and HNF4A possessed significantly lower polygenic risk than those without. Conversely, coronary artery disease controls harboring protective ANGPTL3 variants had nominally higher polygenic risk. This study highlights the power of misalignment-based analyses in complex continuous phenotypes and disease with the potential to validate known genetic contributors to traits and identify previously unassociated genes. - Source: PubMed
Publication date: 2026/06/22
Baya Nikolas ALassen Frederik HHill BarneyVenkatesh Samvida SCurrant HannahLindgren Cecilia MPalmer Duncan S - Mutations in and functional inactivation of the Gorab gene cause gerodermia osteodysplastica (GO), a disease featuring wrinkled skin and osteoporosis, but the underlying mechanisms of skin aging remain incompletely understood. - Source: PubMed
Publication date: 2026/03/23
Li YanhongLiang WeiXu YanfengHan YunlinZhao WenjieWang SiyuanDeng WeiQin Chuan - [This retracts the article DOI: 10.1039/D2NA00394E.]. - Source: PubMed
Publication date: 2026/02/19
Gorab Mostafa GhaforiMoghim Aliabadi Hooman AghamirzaKashtiaray AmirMahdavi MohammadBani Milad SalimiEtminan AndishehSalehpour NabiEivazzadeh-Keihan RezaMaleki Ali - Polygenic scores (PGS) predict complex traits and stratify disease risk but often fail to fully capture individual-level variation. "Misaligned" individuals, whose observed phenotypes deviate from their genetically expected values based on polygenic scores (PGS), provide a powerful model for identifying factors beyond common-variant effects, including additional genetic factors. Here, we apply misalignment classification and enrichment testing frameworks to seven continuous and three dichotomous traits, assessing whether misaligned individuals in the UK Biobank are enriched for rare (minor allele frequency (MAF) < 0.1%) damaging genetic variation. We identify significant enrichment (false discovery rate (FDR)-adjusted < 0.05) of predicted loss-of-function (pLoF) variants in and among individuals misaligned for lower-than-expected bone mineral density. We refine previously observed grouped-gene enrichment in individuals with misaligned stature to the single-gene level: shorter-than-expected individuals are enriched for pLoF variants in and , and taller-than-expected individuals are enriched for predicted damaging missense in . Using an individual's misalignment classification as a phenotype, we perform an exome-wide scan across seven traits, resulting in 74 FDR-significant genes. We identify as a gene associated with later age at menopause, potentially protective against primary ovarian insufficiency. For dichotomous disease status traits, we demonstrate evidence for the liability threshold model in the context of counteracting conditionally-orthogonal common and rare variant pathogenic/protective effects. Among individuals diagnosed with type 2 diabetes, carriers of rare pathogenic pLoF variants in and had significantly lower polygenic risk than non-carriers (FDR-adjusted one-sided -test < 5 × 10). We also show that coronary artery disease controls carrying rare protective pLoF variants in had nominally higher polygenic risk (one-sided -test = 0.03) than non-carriers. This study highlights the power of misalignment-based analyses in complex continuous phenotypes and disease, with the potential to validate known genetic contributors to traits and identify novel genes. This work paves the way for better molecular diagnoses and targeted therapeutic discovery. - Source: PubMed
Publication date: 2025/12/31
Baya Nikolas ALassen Frederik HHill BarneyVenkatesh Samvida SCurrant HannahLindgren Cecilia MPalmer Duncan S - Geroderma osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder. It presents with progeroid craniofacial features, lax skin, hypermobile joints, and osteoporosis. GO arises from pathogenic variants in GORAB that disrupt Golgi apparatus function and extracellular matrix organization. This narrative review synthesizes the current evidence on its clinical presentation, differential diagnosis, molecular basis, and treatment. Management is largely supportive and interdisciplinary, involving orthopedic, dental, and physiotherapeutic care. Therapeutic intervention focuses on preventing bone density loss and decreasing fracture risk with bisphosphonates and vitamin D supplementation. Improved understanding of GO through larger cohort studies and care protocols is needed to improve patient outcomes and guide translational research. - Source: PubMed
Publication date: 2025/12/28
Slaiby NaimAsmar RaphaelAsmar ChristeleNguyen TerrySaad Charbel G