The Pathogenic Mechanism of the ATP2C1 p.Ala109_Gln120del Mutation in Hailey-Hailey Disease.

ABSTRACT:

Background

Hailey-Hailey disease (HHD) is an autosomal dominant cutaneous disorder that manifests as repeated blisters and erosions on flexural or intertriginous skin areas. The calcium-transporting ATPase type 2C member 1 gene (ATP2C1) encodes the secretory pathway Ca²⁺/Mn²⁺-ATPase 1 (SPCA1), whose deficiency is responsible for HHD. An ATP2C1 splice-site mutation (c.325-2A>G, p.Ala109_Gln120del) was previously identified in a Han Chinese family with HHD.

Methods

In this study, the identified ATP2C1 splice-site mutation (c.325-2A>G, p.Ala109_Gln120del) was investigated in transfected human embryonic kidney 293 cells to analyze its pathogenic mechanism in HHD patients by using cycloheximide chase assay, CCK8 assay and in silico model

SUBMITTER: Li P 

PROVIDER: S-EPMC9569160 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature