| Modification Notes |
Hole, alternatively known as TMEM121 (transmembrane protein 121), is a 319 amino acid multi-pass membrane protein. Known to localize to chick heart and brain, hole is thought to be a novel gene product which has also been identified in mouse brain. The gene encoding hole maps to human chromosome 14, which houses over 700 genes and comprises nearly 3.5% of the human genome. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease (AD). The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder å1-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction. |