| Modification Notes |
ATP10D (ATPase class V type 10D), also known as ATPVD, is a 1,426 amino acid multi-pass membrane protein belonging to the cation transport ATPase (P-type) family and type IV subfamily. Expressed in placenta, ATP10D is found at a lesser extent in kidney and catalyzes the reaction of ATP and water to ADP and phosphate. ATP10D exists as two alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 4, which represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. |