C2orf29, C40, CB029_HUMAN, Chromosome 2 open reading frame 29, Hypothetical protein LOC55571, UPF0760 protein C2orf29.
C2orf29, also known as C40, is a 510 amino acid protein that belongs to the UPF0760 family and is encoded by a gene that maps to human chromosome 2q11.2. 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, 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.
