CCDC113, Chromosome 2 open reading frame 61, Coiled-coil domain-containing protein 113 Gene names, DKFZp434N1418, HSPC065, Uncharacterized protein C2orf61, CB061_HUMAN.
C2orf61 (chromosome 2 open reading frame 61), also known as FLJ40172, is a 177 amino acid protein encoded by a gene that maps to human chromosome 2p21. 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, Alstr 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.
