PDCD6IP Human

The PDCD6IP gene is located on chromosome 3 in humans . The gene encodes a protein that is involved in the endosomal sorting complexes required for transport (ESCRT) pathway . This pathway is essential for the abscission stage of cytokinesis, intraluminal endosomal vesicle formation, and enveloped virus budding .

PDCD6IP is a Class E VPS protein involved in the concentration and sorting of cargo proteins of the multivesicular body (MVB) for incorporation into intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome . This protein is also vital at the later stages and for the successful completion of cytokinesis .

One of the key functions of PDCD6IP is its role in apoptosis. Studies using mouse cells have shown that overexpression of this protein can block apoptosis . The protein binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner . Additionally, PDCD6IP binds to endophilins, proteins that regulate membrane shape during endocytosis . Overexpression of PDCD6IP and endophilins results in cytoplasmic vacuolization, which may partly be responsible for the protection against cell death .

Mutations or dysregulation of the PDCD6IP gene have been associated with several diseases, including Microcephaly 29, Primary, Autosomal Recessive, and Neuronal Ceroid Lipofuscinosis . The protein’s involvement in the ESCRT pathway also links it to the HIV life cycle and other infectious diseases .

Recombinant PDCD6IP protein is widely used in research to study its various functions and interactions. The protein’s ability to block apoptosis makes it a potential target for therapeutic interventions in diseases where apoptosis plays a critical role. Additionally, its role in the ESCRT pathway makes it a valuable tool for studying viral budding and other related processes.