VABP
MIM.605704 20q13.3
The VAPB gene encodes a protein that is a member of the vesicle-associated membrane protein (VAMP)-associated protein (VAP) family.
VAPB plays a role in the unfolded protein response (UPR), a process that suppresses the accumulation of unfolded proteins in the endoplasmic reticulum.
SNAREs are compartmentally specific, cytoplasmically oriented integral membrane proteins involved in the fusion of membranes and the transport of intracellular proteins.
Recognition of vesicles and target membranes is mediated by v-SNAREs (e.g., VAMP8; MIM.603177) and t-SNAREs (e.g., SNAP23; MIM.602534), respectively.
Pathology
germline mutations in atypical amyotrophic lateral sclerosis locus 8 (ALS8) (MIM.608627)
References
Kanekura, K.; Nishimoto, I.; Aiso, S.; Matsuoka, M. : Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8). J. Biol. Chem. 281: 30223-30233, 2006. PubMed ID : #16891305#
Kirby, J.; Hewamadduma, C. A. A.; Hartley, J. A.; Nixon, H. C.; Evans, H.; Wadhwa, R. R.; Kershaw, C.; Ince, P. G.; Shaw, P. J. : Mutations in VAPB are not associated with sporadic ALS. Neurology 68: 1951-1953, 2007. PubMed ID : #17536055#
Nishimura, A. L.; Al-Chalabi, A.; Zatz, M. : A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population. Hum. Genet. 118: 499-500, 2005. PubMed ID : #16187141#
Nishimura, A. L.; Mitne-Neto, M.; Silva, H. C. A.; Richieri-Costa, A.; Middleton, S.; Cascio, D.; Kok, F.; Oliveira, J. R. M.; Gillingwater, T.; Webb, J.; Skehel, P.; Zatz, M. : A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet. 75: 822-831, 2004. PubMed ID : #15372378#