SORCS3 (Entrez ID: 22986)

Entrez Gene ID 22986
Official Gene Symbol SORCS3 (GeneCards)
Full name sortilin related VPS10 domain containing receptor 3
Location 10q25.1
Other ids Vega : OTTHUMG00000019011
MIM : 606285
HGNC : HGNC:16699
Ensembl : ENSG00000156395
Other names SORCS
Summary This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]

Variants

Found 12 variants in this database.