DISEASES

Disease-gene associations mined from literature

Literature associating LIN7B and retinitis pigmentosa 24

LIN7B [ENSP00000221459]

Mammalian lin-seven protein 2; Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. May increase the amplitude of ASIC3 acid-evoked currents by stabilizing the channel at the cell surface (By similarity); Belongs to the lin-7 family.

Synonyms:  LIN7B,  LIN7Bp,  hLIN7B,  LIN7B-001,  LIN7B-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM