| Modification Notes |
CCP5 (cytosolic carboxypeptidase-like protein 5), also known as AGBL5 (ATP/GTP binding protein-like 5), is an 886 amino acid protein that localizes to both the cytoplasm and the nucleus and is expressed predominately in brain tissue. Three isoforms of CCP5 exist due to alternative splicing events. The gene encoding CCP5 maps to human chromosome 2, which houses over 1,400 genes and comprises nearly 8% of the human genome. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene, while the lipid metabolic disorder sitosterolemia is associated with defects in the ABCG5 and ABCG8 genes. Additionally, an extremely rare recessive genetic disorder, Alström syndrome, is caused by mutations in the ALMS1 gene, which maps to chromosome 2. |