2mdk

Structural highlights

Disease

[VAPB_HUMAN] Adult-onset proximal spinal muscular atrophy, autosomal dominant;Amyotrophic lateral sclerosis. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry.

Function

[VAPB_HUMAN] Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation.^{[1] [2] [3]}

See Also

• Vesicle-associated membrane protein

References

1. ↑ 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. 2006 Oct 6;281(40):30223-33. Epub 2006 Aug 4. PMID:16891305 doi:http://dx.doi.org/10.1074/jbc.M605049200
2. ↑ Chen HJ, Anagnostou G, Chai A, Withers J, Morris A, Adhikaree J, Pennetta G, de Belleroche JS. Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis. J Biol Chem. 2010 Dec 17;285(51):40266-81. doi: 10.1074/jbc.M110.161398. Epub, 2010 Oct 12. PMID:20940299 doi:http://dx.doi.org/10.1074/jbc.M110.161398
3. ↑ De Vos KJ, Morotz GM, Stoica R, Tudor EL, Lau KF, Ackerley S, Warley A, Shaw CE, Miller CC. VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis. Hum Mol Genet. 2012 Mar 15;21(6):1299-311. doi: 10.1093/hmg/ddr559. Epub 2011 Nov, 30. PMID:22131369 doi:http://dx.doi.org/10.1093/hmg/ddr559