404 The Vps33b-Vipar complex is required for epidermal homeostasis

Mutations in Vps33b and Vipas39 cause the rare multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis syndrome (ARC); one characteristic but understudied feature of which is severe ichthyosis. The Vps33b and Vipar proteins interact and have been shown to also interact with Rab GTPases and act as a tethering factor; the class C Homologues in Endosome-Vesicle Interaction (CHEVI) complex. ARC syndrome patients have been shown to have entombed lamellar body-like structures in the stratum corneum however the molecular mechanisms underlying ARC patient ichthyosis and the specific role of the CHEVI complex in the epidermis are yet to be defined.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Epidermal Structure and Barrier Function Source Type: research