Background information
Acetyltransferases and deacetylases are protein groups most often associated with oncogenesis and cell cycle regulation. NAT-8B (N-acetyltransferase 8B), also known as CML2 (camello-like protein 2), is a 227 amino acid single-pass membrane protein that is implicated in gastrulation regulation. A member of the camello family, NAT-8B contains one N-acetyltransferase domain and is encoded by a gene that maps to human chromosome 2p13.2. The NAT-8B gene is susceptible to a nonsense mutation at Serine 16, which leads to a stop codon and subsequently, a non-functional protein that is truncated in length. Similarly, a nonsense mutation at Glutamine 168 is thought to lead to a non-functional protein, as it causes the N-acetyltransferase to become disrupted. Human chromosome 2 consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2 including Harlequin icthyosis, sitosterolemia and Alstré°‰ syndrome.
