| Modification Notes |
SYNJ2BP (Synaptojanin-2-binding protein), also known as mitochondrial outer membrane protein 25 (OMP25) or ARIP2, is a 145 amino acid mitochondrial outer membrane protein that contains one PDZ (DHR) domain. The PDZ domain on SYNJ2BP binds to isoform 2A of Synaptojanin 2. The gene that encodes SYNJ2BP contains 50,595 bases and maps to human chromosome 14q24.2. Housing over 700 genes, chromosome 14 comprises nearly 3.5% of the human genome. Chromosome 14 encodes the Presenilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer’s disease. 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. |