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Cellular and Molecular Life Sciences

, Volume 74, Issue 20, pp 3687–3696 | Cite as

The role of the ATP2C1 gene in Hailey–Hailey disease

  • Hao DengEmail author
  • Heng Xiao
Review

Abstract

Hailey–Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis, characterized by a chronic course of repeated and exacerbated skin lesions in friction regions. The pathogenic gene of HHD was reported to be the ATPase calcium-transporting type 2C member 1 gene (ATP2C1) located on chromosome 3q21–q24. Its function is to maintain normal intracellular concentrations of Ca2+/Mn2+ by transporting Ca2+/Mn2+ into the Golgi apparatus. ATP2C1 gene mutations are reportedly responsible for abnormal cytosolic Ca2+/Mn2+ levels and the clinical manifestations of HHD. Environmental factors and genetic modifiers may also affect the clinical variability of HHD. This article aims to critically discuss the clinical and pathological features of HHD, differential diagnoses, and genetic and functional studies of the ATP2C1 gene in HHD. Further understanding the role of the ATP2C1 gene in the pathogenesis of HHD by genetic, molecular, and animal studies may contribute to a better clinical diagnosis and provide new strategies for the treatment and prevention of HHD.

Keywords

Clinical manifestation Gene function Genetics Mutation analysis Pathogenesis Animal model 

Abbreviations

A

Actuator domain

ASTE1

Asteroid homolog 1

ATP

Adenosine triphosphate

ATP2C1

ATPase calcium–transporting type 2C member 1

C. elegans

Caenorhabditis elegans

DD

Darier disease

HHD

Hailey–Hailey disease

M

Transmembrane

N

Nucleotide–binding domain

P

Phosphorylation domain

PTCs

Premature termination codons

PV

Pemphigus vulgaris

SERCA

Sarcoplasmic/endoplasmic reticulum Ca2+–ATPase

SPCA

Secretory pathway Ca2+/Mn2+–ATPase

Notes

Acknowledgements

This work was supported by grants from the National Key Research and Development Program of China (2016YFC1306604), the National Natural Science Foundation of China (81670216), the Natural Science Foundation of Hunan Province (2015JJ4088 and 2016JJ2166), the grant for the Foster Key Subject of the Third Xiangya Hospital of Central South University (Clinical Laboratory Diagnostics), and the New Xiangya Talent Project of the Third Xiangya Hospital of Central South University (20150301), China.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer International Publishing 2017

Authors and Affiliations

  1. 1.Center for Experimental Medicine, The Third Xiangya HospitalCentral South UniversityChangshaPeople’s Republic of China
  2. 2.Department of Neurology, The Third Xiangya HospitalCentral South UniversityChangshaPeople’s Republic of China
  3. 3.Department of Pathology, The Third Xiangya HospitalCentral South UniversityChangshaPeople’s Republic of China

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