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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]