| Literature DB >> 15149492 |
J Dhitavat1, R J Fairclough, A Hovnanian, S M Burge.
Abstract
Darier's disease and Hailey-Hailey disease are autosomal dominantly inherited skin disorders in which desmosomal adhesion between keratinocytes is abnormal. ATP2A2 and ATP2C1 have been identified as the causative genes for Darier's disease and Hailey-Hailey disease, respectively. ATP2A2 encodes the sarco(endo)plasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2) pump, while ATP2C1 encodes a secretory pathway Ca(2+)/Mn(2+)-ATPase (SPCA1) found in the Golgi apparatus. We review recent work into the function of these pumps in human keratinocytes and discuss how mutations in these genes might cause these diseases by altering the formation or stability of desmosomes.Entities:
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Year: 2004 PMID： 15149492 DOI： 10.1111/j.1365-2133.2004.05904.x
Source DB: PubMed Journal: Br J Dermatol ISSN： 0007-0963 Impact factor: 9.302