Mutations in
ATP2A2, encoding a Ca2+ pump, cause Darier disease.
Seipin was also demonstrated to bind sarco/endoplasmic reticulum [Ca.sup.2+] -ATPase (SERCA, UniProt gene name:
ATP2A2) protein both in the Drosophila fat body model and in human HEK293 cells.
The disease is caused by a loss-of-function mutation in the
ATP2A2 gene on chromosome 12q23-24 that encodes the sarco/endoplasmic reticulum calcium ATPase (SERCA2).
(8) In 1999, mutations in the
ATP2A2 gene were found to cause the disease.
(26,27) It has been hypothesized that these incidental histologic findings found adjacent to other skin tumors may harbor random acquired mutations, from the socalled field cancerization effect, (22) identical to the mutations found in their respective genodermatosis (ie,
ATP2A2 gene mutations encoding a calcium ion pump in Darier disease).
Mutations in
ATP2A2, encoding a Ca+2 pump, cause Darier disease.
Mutations in
ATP2A2, encoding a [Ca.sup.2+] pump, cause Darier disease.
A mutation in the gene
ATP2A2 which encodes for sarco-endoplasmic reticulum Ca2+ ATPase,
ATP2A2 (SERCA2).