PPP2R5D : protein phosphatase 2 regulatory subunit B'delta
Description
The PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) is a protein-coding gene located on chromosome 6.
The PPP2R5D gene produces instructions for making the B56-delta protein, a component of the protein phosphatase 2A (PP2A) enzyme. PP2A plays a vital role in regulating cellular processes by removing phosphate groups from proteins. The B56-delta subunit helps PP2A choose which proteins to dephosphorylate and regulates the enzyme's activity. PP2A with the B56-delta subunit is primarily found in the brain, where it likely controls signaling pathways important for nerve cell development and function.
The B regulatory subunit, encoded by the PPP2R5D gene, influences which proteins are targeted for dephosphorylation by the PP2A enzyme. It also plays a role in controlling the overall activity of PP2A and can guide the enzyme to specific locations within the cell.
PPP2R5D is also known as B56D, B56delta, HJS1, MRD35.
Associated Diseases
- Mental retardation, autosomal dominant 35
- Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
- PPP2R5D-related intellectual disability
