| Modification Notes |
YSK4 (YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)), also known as RCK (regulated in COPD, protein kinase), is a 1,328 amino acid protein that belongs to the STE Ser/Thr protein kinase family, STE20 subfamily and protein kinase superfamily. Containing one protein kinase domain, YSK4 exists as six alternatively spliced isoforms that are encoded by a gene that maps to human chromosome 2 and mouse chromosome 1. Human 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. |