RLLM1 Polyclonal Antibody, AbBy Fluor™ 488 Conjugated

CGI-99 is a 244 amino acid protein that localizes to the nucleus, as well as to the cytoplasm, and belongs to the UPF0568 family. Expressed in a variety of tissues with particularly high levels in heart and skeletal muscle, CGI-99 functions as a homodimer that interacts with Ninein and is thought to regulate Ninein function. CGI-99 is overexpressed in brain tumor tissue, suggesting a role in tumor development and metastasis. The gene encoding CGI-99 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 ?-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction.