C22orf43, Chromosome 22 open reading frame 43, CV043_HUMAN, Putative uncharacterized protein C22orf43, Uncharacterized protein C22orf43.
C22orf43 (chromosome 22 open reading frame 43), also known as MGC33025 or MGC75009, is a 229 amino acid protein encoded by a gene located on human chromosome 22, which contains over 500 genes and about 49 million bases. As the second smallest human chromosome, chomosome 22 contains a wide variety of genes with numerous functions. Phelan-McDermid syndrome, Neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. Translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein, BCR-Abl, a potent cell proliferation activator found in several types of leukemia.
