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. The C4orf46 gene product has been provisionally designated C4orf46 pending further characterization.
Synonyms: C4orf46, CD046_HUMAN, Chromosome 4 open reading frame 46, hypothetical protein LOC201725, Hypothetical protein LOC201725 2, Uncharacterized protein C4orf46.