5vgr

Structural highlights

Disease

[ATLA3_HUMAN] Hereditary sensory and autonomic neuropathy type 1. The disease is caused by mutations affecting the gene represented in this entry.

Function

[ATLA3_HUMAN] GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis.^{[1] [2]}

References

1. ↑ Rismanchi N, Soderblom C, Stadler J, Zhu PP, Blackstone C. Atlastin GTPases are required for Golgi apparatus and ER morphogenesis. Hum Mol Genet. 2008 Jun 1;17(11):1591-604. doi: 10.1093/hmg/ddn046. Epub 2008 Feb, 12. PMID:18270207 doi:10.1093/hmg/ddn046
2. ↑ Hu J, Shibata Y, Zhu PP, Voss C, Rismanchi N, Prinz WA, Rapoport TA, Blackstone C. A class of dynamin-like GTPases involved in the generation of the tubular ER network. Cell. 2009 Aug 7;138(3):549-61. PMID:19665976 doi:S0092-8674(09)00628-X