KIAA1430 is a 532 amino acid protein that is a member of the UPF0501 family and contains a single coiled coil domain. KIAA1430 is post-translationally phosphorylated at threonine 133 as well as serine 138 and 139. Alternatively spliced into two isoforms, the gene encoding KIAA1430 maps to human chromosome 4. Chromosome 4 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.