Ontology highlight
ABSTRACT:
SUBMITTER: Schushan M
PROVIDER: S-EPMC6365107 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Schushan Maya M Bhattacharjee Ashima A Ben-Tal Nir N Lutsenko Svetlana S
Metallomics : integrated biometal science 20120613 7
The copper-transporting ATPase ATP7B has an essential role in human physiology, particularly for the liver and brain function. Inactivation of ATP7B is associated with a severe hepato-neurologic disorder, Wilson disease (WD). Hundreds of WD related mutations have been identified in ATP7B to date. The low frequency and the compound-heterozygous nature of causative mutations complicate the analysis of individual mutants and the establishment of genotype-phenotype correlations. To facilitate studie ...[more]