Background information
ANKRD17 is a 2,603 amino acid protein that contains 25 ankyrin repeats and one KH domain. ANKRD17 is expressed in bone marrow and is thought to be involved in liver development. ANKRD17 localizes to the cytoplasm and the nucleus. ANKRD17 exists as five alternatively spliced isoforms that are encoded by a gene which maps to human chromosome 4. Representing approximately 6% of the human genome, chromosome 4 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. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes.
