MKKS : MKKS centrosomal shuttling protein


Description

The MKKS (MKKS centrosomal shuttling protein) is a protein-coding gene located on chromosome 20.

The MKKS gene (also known as the BBS6 gene) provides instructions for making a protein that plays a vital role in early development, specifically in the formation of the limbs, heart, and reproductive system. This protein's structure suggests it may belong to a family of proteins called chaperonins. Proteins must fold into the correct shape to function properly, and chaperonins assist in this process. The MKKS protein combines with other proteins to form a structure known as the chaperonin complex. The chaperonin complex acts as a scaffold for the assembly of another molecule called the BBSome. The BBSome helps transport materials that support the function of cilia, the microscopic, finger-like projections on the surface of cells. Cilia help transmit information. Researchers hypothesize that the MKKS protein may also be directly involved in transporting important molecules to different locations within the cell. Specifically, the MKKS protein might help transport SMARCC1 protein from the cytoplasm into the nucleus of the cell. SMARCC1 helps regulate the activity of certain genes.

The MKKS protein acts as a molecular chaperone, assisting in the proper folding of proteins by using energy from ATP hydrolysis. It plays a crucial role in the assembly of the BBSome, a complex essential for ciliogenesis, which regulates the transport of vesicles to the cilia. MKKS is implicated in protein processing during the development of the limbs, heart, and reproductive system. Additionally, it might be involved in cytokinesis, the process of cell division.

MKKS is also known as BBS6, HMCS, KMS, MKS.

Associated Diseases


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