9.B.39.1.9
Lysosomal membrane protein 2, LIMP2 or Scarb2, of 478 aas and 2 TMSs, N- and C-terminal.  LIMP2 plays a role in the regulation of membrane transport processes in the endocytic pathway. Knipper et al. 2006 showed that LIMP2-deficient mice display a progressive high-frequency hearing loss and decreased otoacoustic emissions as early as 4 weeks of age. The decline of functional KCNQ1/KCNE1 is likely to be the primary cause of the hearing loss because LIMP2 controls the localization and the level of apically expressed membrane proteins such as KCNQ1, KCNE1 in the stria vascularis (Knipper et al. 2006). LIMP2 deficiency also causes myoclonus epilepsy and glomerulosclerosis (Berkovic et al. 2008) and genetic variants are associated with Gaucher and Parkinson's diseases (Michelakakis et al. 2012). The pathologies associated with LIMP2 have been reviewed (Dibbens et al. 2016; Zigdon et al. 2017).