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, 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.
Synonyms: CCDC113, Chromosome 2 open reading frame 61, Coiled-coil domain-containing protein 113 Gene names, DKFZp434N1418, HSPC065, Uncharacterized protein C2orf61, CB061_HUMAN.