Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 31-08-2010 |
Symbol | BCPM |
Location | 3q22.1 |
Name | benign chronic pemphigus with acantholysis |
Other name(s) | Hailey-Hailey disease |
Corresponding gene | ATP2C1 |
Other symbol(s) | BCPA, HHD |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | dermatology |
Type | disease |
Gene product |
Name | a sarco/endoplasmic reticulum (ER-) Golgi calcium pump : ATP2C1, ATPase Ca2+ transporting C1 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
|  
| abnormal protein/loss of function
|  
| |
Remark(s) | . keratinocytes containing an ATP2C1 mutation were deficient in intracellular Ca2+ regulation (PMID: 21329674)) |