Literature associating SORBS2 and Bietti crystalline corneoretinal dystrophy
SORBS2 [ENSP00000347852]
Sorbin and SH3 domain-containing protein 2; Adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL kinases and actin cytoskeleton. Can form complex with ABL1 and CBL, thus promoting ubiquitination and degradation of ABL1. May play a role in the regulation of pancreatic cell adhesion, possibly by acting on WASF1 phosphorylation, enhancing phosphorylation by ABL1, as well as dephosphorylation by PTPN12 . Isoform 6 increases water and sodium absorption in the intestine and gall-bladder.
Synonyms: SORBS2, SORBS2p, hSORBS2, A0A1D5RMN3, A0A3B3ITL8 ...