Gene: OSBPL6

Alternate names for this Gene: ORP6

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. Transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.2

Description of this Gene: oxysterol binding protein like 6

Type of Gene: protein-coding

rs1347297 in OSBPL6 gene and Alzheimer's Disease PMID 26830138 2016 Using a multivariate phenotype combining affection status and onset age, meta-analysis of the association results revealed three single nucleotide polymorphisms (SNPs) that achieved genome-wide significance for association with AD risk: rs7609954 in the gene PTPRG (P-value=3.98 × 10<sup>-8</sup>), rs1347297 in the gene OSBPL6 (P-value=4.53 × 10<sup>-8</sup>), and rs1513625 near PDCL3 (P-value=4.28 × 10<sup>-8</sup>).

rs2304340 in OSBPL6 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs2304340 in OSBPL6 gene and Vital capacity PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.