CIB4 (calcium and integrin-binding family member 4) is a 185 amino acid protein that contains three EF-hand domains. CIB4 is closely related to CIB (CIB has one less EF-hand domain), which is known to bind to Integrin alpha II beta in platelets and is involved in signal transduction. The gene encoding CIB4 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 disorders itosterolemia is associated with defects in the ABCG5 and ABCG8 genes. Additionally, an extremely rare recessive genetic disorder, Alstrom syndrome, is caused by mutationsin the ALMS1 gene, which maps to chromosome 2.
Calcium and integrin-binding family member 4