Entrez Gene ID |
6653 |
Official Gene Symbol |
SORL1 (GeneCards) |
Full name |
sortilin related receptor 1 |
Location |
11q24.1 |
Other ids |
Vega : OTTHUMG00000166057
MIM : 602005
HGNC : HGNC:11185
Ensembl : ENSG00000137642
|
Other names |
LR11,
LRP9,
SORLA,
gp250,
SorLA-1,
C11orf32
|
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. [provided by RefSeq, Feb 2016] |