Gene: SORL1

Alternate names for this Gene: C11orf32|LR11|LRP9|SORLA|SorLA-1|gp250

Gene Summary: This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease.

Gene is located in Chromosome: 11

Location in Chromosome : 11q24.1

Description of this Gene: sortilin related receptor 1

Type of Gene: protein-coding

rs11218343 in SORL1 gene and Alzheimer's Disease PMID 23565137 2013 SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.

PMID 24162737 2013 Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.

PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

PMID 30617256 2019 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

PMID 31473137 2019 Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project.

rs12285364 in SORL1 gene and Fasting blood glucose measurement PMID 19060907 2009 Variants in MTNR1B influence fasting glucose levels.