SCARB2
MIM.602257 Chr.2
Pathology
SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis (#18308289#)
SCRAB2/LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice (#12620969#)
References
Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D’Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet. 2008 Mar;82(3):673-84. PMID: #18308289#
Gamp, A.-C.; Tanaka, Y.; Lullmann-Rauch, R.; Wittke, D.; D’Hooge, R.; De Deyn, P. P.; Moser, T.; Maier, H.; Hartmann, D.; Reiss, K.; Illert, A.-L.; von Figura, K.; Saftig, P. : LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice. Hum. Molec. Genet. 12: 631-646, 2003. PubMed ID : #12620969#