GeneID: 319

Description:
The SORCS1 gene encodes a vacuolar protein sorting protein 10 (VPS10) domain-containing receptor that binds neuropeptides. VPS10 functions as a sorting receptor in the Golgi compartment required for the intracellular sorting and delivery of soluble vacuolar proteins, like carboxypeptidase Y (CPY) and proteinase A. The VPS10 domain-containing receptor protein family contains five type I membrane homologs (SORL1, SORT1, SorCS1, SorCS2 and SorCS3) that are strongly expressed in the central nervous system. Genetic variance in SORCS1 gene associated with episodes of pain in patients with sickle cell disease.

Synonyms: hSorCS

Comments:
N/A

Number of entries/variants: 1

1. Hampe W, Rezgaoui M, Hermans-Borgmeyer I, Schaller HC, The genes for the human VPS10 domain-containing receptors are large and contain many small exons., Hum. Genet., 108(6), 529-36, 2001 PubMed
2. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed