title: Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.
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.
authors.affiliation: INSERM U563, Purpan Hospital, Place du Dr Baylac, 31059 Toulouse cedex 03, France.
authors.forename: J
authors.initials: J
authors.lastname: Dhitavat
authors.forename: R J
authors.initials: RJ
authors.lastname: Fairclough
authors.forename: A
authors.initials: A
authors.lastname: Hovnanian
authors.forename: S M
authors.initials: SM
authors.lastname: Burge
mesh_terms: D000252:Calcium-Transporting ATPases / Q000235:genetics / Q000502:physiology*; D007644:Darier Disease / Q000235:genetics* / Q000473:pathology; D003896:Desmosomes / Q000502:physiology; D006801:Humans; D015603:Keratinocytes / Q000473:pathology*; D009154:Mutation; D016506:Pemphigus, Benign Familial / Q000235:genetics* / Q000473:pathology; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases
chemical_list: D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; D000252:Calcium-Transporting ATPases