Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmenta...

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VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1

B Ugur, F Schueder, J Shin, MG Hanna, Y Wu… - Journal of Cell …, 2024 - rupress.org
Mutations in VPS13B, a member of a protein family implicated in bulk lipid transport between
adjacent membranes, cause Cohen syndrome. VPS13B is known to be concentrated in the …
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