PPP2R5D gene

protein phosphatase 2 regulatory subunit B'delta

The PPP2R5D gene provides instructions for making a protein called B56-delta (B56δ). This protein is one piece (the B subunit) of an enzyme called protein phosphatase 2A (PP2A). (B56δ is one of several possible B subunits.) The PP2A enzyme removes phosphate groups, consisting of three oxygen atoms and one phosphorus atom, from certain proteins. This process, called dephosphorylation, helps control whether the protein is turned on or off. The B subunit determines which proteins are dephosphorylated by PP2A and regulates the activity of the enzyme.

PP2A removes phosphate groups from proteins that are part of signaling pathways involved in cell growth and turning genes on and off. PP2A enzymes containing the B56δ protein are found mainly in the brain, where they are thought to be primarily involved in controlling the activity of signaling pathways that play roles in the normal development and function of nerve cells (neurons).

At least seven PPP2R5D gene mutations have been found to cause moderate to severe intellectual disability. Individuals with PPP2R5D-related intellectual disability typically also have weak muscle tone (hypotonia) and delayed development of speech and walking. These mutations affect one copy of the gene. They change single protein building blocks (amino acids) in the B56δ protein. Although the effects of these changes are unclear, researchers suspect that they alter or impair the activity of the PP2A enzyme. Abnormal or reduced PP2A enzyme activity is thought to disrupt signaling pathways in neurons, impairing their normal development and functioning, which may underlie intellectual disability and other features of PPP2R5D-related intellectual disability.

Cytogenetic Location: 6p21.1, which is the short (p) arm of chromosome 6 at position 21.1

Molecular Location: base pairs 42,984,499 to 43,012,345 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21.1, which is the short (p) arm of chromosome 6 at position 21.1
  • B56D
  • B56delta
  • MRD35
  • PP2A, B subunit, B' delta isoform
  • PP2A, B subunit, B56 delta isoform
  • PP2A, B subunit, PR61 delta isoform
  • PP2A, B subunit, R5 delta isoform
  • protein phosphatase 2, regulatory subunit B (B56), delta isoform
  • Serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, delta isoform