| Modification Notes |
ATP13A3 (ATPase type 13A3), also known as AFURS1, is a 1,130 amino acid multi-pass membrane protein that belongs to the cation transport family of P-type ATPases. Expressed at high levels in deteriorating kidney parenchymal cells, ATP13A3 uses ATP to catalyze the active transport of ions across cellular membranes. The gene encoding ATP13A3 maps to human chromosome 3, which houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3. |