Gene: OSBPL1A

Alternate names for this Gene: ORP-1|ORP1|OSBPL1B

Gene Summary: This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms.

Gene is located in Chromosome: 18

Location in Chromosome : 18q11.2

Description of this Gene: oxysterol binding protein like 1A

Type of Gene: protein-coding

rs12604324 in OSBPL1A gene and Dementia PMID 25188341 2014 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.

rs275856 in OSBPL1A gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 25483131 2014 T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility.

rs4800181 in OSBPL1A gene and Mean blood pressure PMID 22510845 2012 Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene sets.

rs7227401 in OSBPL1A gene and Osteoporosis PMID 20548944 2010 An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.

rs9635963 in OSBPL1A gene and Sex hormone binding globulin measurement PMID 18464913 2008 A genome-wide association study identifies protein quantitative trait loci (pQTLs).

rs76786413 in OSBPL1A gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.