CIB4 Rabbit anti-Human, Mouse, Polyclonal, Proteintech

Beschreibung

CIB4 (calciumand integrin-binding familymember 4) is a 185 amino acid protein thatcontainsthree EF-hand domains. CIB4 is closelyrelated to CIB (CIB has one less EF-hand domain),which is known to bind to Integrin alpha II beta in platelets and isinvolved 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 andmorbid skin deformity, is associated with mutations in the ABCA12 gene,while the lipid metabolic disorders itosterolemia is associated with defectsin 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.