Ontology highlight
ABSTRACT:
SUBMITTER: Noda K
PROVIDER: S-EPMC5159474 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Noda Kana K Takeichi Takuya T Okuno Yusuke Y Takama Hiromichi H Miura Shunsuke S Kagami Shinji S Hino Haruko H Nakamura Yuki Y Fujio Yumi Y Konohana Izumi I Otani Ayako A Mukai Hideki H Sugiura Kazumitsu K Akiyama Masashi M
Nagoya journal of medical science 20161201 4
Darier's disease (DD, keratosis follicularis: OMIM#124200) is an autosomal dominant skin disorder characterized by multiple dark brown keratotic plaques and warty papules covered by thick crusts. Most cases of DD are caused by mutations in <i>ATP2A2</i>, which is expressed in both the skin and the brain. <i>ATP2A2</i> encodes the cardiac muscle SERCA2a protein and the ubiquitously expressed SERCA2b. SERCA2 plays an important role as a calcium pump. It is thought that a mutation in <i>ATP2A2</i> ...[more]