ATP7B
From Ganfyd
Web Resources for ATP7B
Other Names
PWD, WC1, WND
Genetic Databases
Relevant Clinical Literature
RCT with ATP7B from Pubmed
UK Guidance
The ATP7B gene at 13q14.3-q21.1 codes for copper-transporting ATPase 2 defects of which causes Wilson's disease. Four isoforms of the membrane protein are produced by produced by alternative splicing. One isoform is brain specific.
