9.B.39.1.9 Lysosomal membrane protein 2, LIMP2, LIMP-2, LIMPII, LGP85 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). LIMP-2 is ubiquitinated in the N-terminal cytoplasmic domain (Fujimoto et al. 2020). It is involved in the activation of autophagy (Sakane et al. 2020).
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Accession Number: | O35114 |
Protein Name: | Lysosome membrane protein 2 |
Length: | 478 |
Molecular Weight: | 54044.00 |
Species: | Mus musculus (Mouse) [10090] |
Number of TMSs: | 1 |
Location1 / Topology2 / Orientation3: |
Lysosome membrane1 / Multi-pass membrane protein2 |
Substrate |
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1: MGRCCFYTAG TLSLLLLVTS VTLLVARVFQ KAVDQTIEKN MVLQNGTKVF NSWEKPPLPV
61: YIQFYFFNVT NPEEILQGEI PLLEEVGPYT YRELRNKANI QFGENGTTIS AVTNKAYVFE
121: RNQSVGDPNV DLIRTINIPL LTVVDLAQLT LLRELIEAML KAYQQKLFVI HTVHELLWGY
181: KDEILSLVHI FKPDVSPNFG LFYERNGTND GEYVFLTGED NYLNFSKIVE WNGKTSLDWW
241: TTDTCNMING TDGDSFHPLI SKDEVLYLFP SDLCRSVHIT FSSFENVEGL PAFRYKVPAE
301: ILANTSENAG FCIPEGNCMD SGVLNISICK NGAPIIMSFP HFYQADEKFV SAIKGMHPNK
361: EEHESFVDIN PLTGIILRGA KRFQINTYVR KLDDFVETGD IRTMVFPVMY LNESVLIDKE
421: TANQLKSVIN TTLVVTNIPY IIMALGVFFG LVFTWLACRG QGSMDEGTAD ERAPLIRT