Skip to main content

Table 1 Molecular functions and disease associations of ER morphology regulators

From: The involvement of endoplasmic reticulum formation and protein synthesis efficiency in VCP- and ATL1-related neurological disorders

  Disease Molecular functions
VCP IBMPFD [13, 14]; ALS [15,16,17]; ASD [18]; HSP [19] AAA+ ATPase; molecular chaperon; cofactors guiding different functions [24,25,26]
ATL1 SPG3A [78] Dynamin-like GTPase; driving homotypic membrane fusion by dimerization [79].
RTN2 SPG12 [80] ER shaping protein; interaction with spastin [80].
REEP1 SPG31 [81] ER-shaping protein; acts together with spastin and atlastin-1 [45].
SPAST SPG4 [82] AAA+ ATPase; microtubule-severing protein [83].
RAB10 PD-associated [84] Small GTPase; controls ER tubule extension and fusion [75]