| Modification Notes |
EML5 (echinoderm microtubule-associated protein-like 5), also known as EMAP-5 or EMAP-2, is a 1,169 amino acid cytoplasmic protein that belongs to the WD repeat EMAP family. EML5 is thought to modify the assembly dynamics of microtubules, perhaps causing slightly longer and more dynamic microtubules. EML5 contains 29 WD repeats, a motif known to mediate protein-protein interactions, and is expressed as five isoforms produced by alternative splicing. The gene that encodes EML5 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. |