| Modification Notes |
SCRN3 (secernin 3), also known as SES3, is a 424 amino acid cytosolic protein that belongs to the peptidase C69 family and secernin subfamily. SCRN3 participates in exocytosis from peritoneal mast cells and is encoded by a gene that maps to human chromosome 2q31.1. As the second largest human chromosome, 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. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alström syndrome is due to mutations in the ALMS1 gene. |