DISEASES

Disease-gene associations mined from literature

Literature associating SORT1 and frontotemporal dementia

SORT1 [ENSP00000256637]

Neurotensin receptor 3; Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi; Belongs to the VPS10-related sortilin family. SORT1 subfamily.

Synonyms:  SORT1,  SORT1p,  hSORT1,  Q99523,  Q99523p ...

Linkouts:  STRING  Pharos  UniProt  OMIM