Background information
C12orf56 (chromosome 12 open reading frame 56), also known as PRO1853 or protein midA homolog, is a 441 amino acid mitochondrial protein that belongs to the midA family. Existing as two alternatively spliced isoforms, C12orf56 is encoded by a gene that maps to human chromosome 2p22.2. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstré°‰ syndrome, is related to mutations in the ALMS1 gene. Chromosome 2 contains a probable vestigial second centromere as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes.
