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PPP2R5D gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PPP2R5D gene

The PPP2R5D gene provides instructions for a protein that regulates cell growth and the development of nerve cells in the brain.

Normal Function

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). The PP2A enzyme removes phosphate groups 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).

Health Conditions Related to Genetic Changes

PPP2R5D-related intellectual disability

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 and change single protein building blocks (amino acids) in the B56δ protein. Researchers suspect that these changes 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.

Other Names for This Gene

  • 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

Genomic Location

The PPP2R5D gene is found on chromosome 6.

Frequently Asked Questions

Individuals with PPP2R5D-related intellectual disability typically present with moderate to severe cognitive impairment, which is often evident in early childhood. Common accompanying features include hypotonia, or low muscle tone, which can affect movement and posture. Developmental delays are a hallmark, particularly in the acquisition of speech and walking skills. Some individuals may also experience seizures, although this is not universal. The severity of symptoms can vary, but the condition generally impacts daily functioning and requires ongoing support for learning and communication.
The PPP2R5D gene produces the B56-delta protein, a subunit of the protein phosphatase 2A (PP2A) enzyme. This enzyme is crucial for regulating signaling pathways in neurons by removing phosphate groups from other proteins. In the brain, PP2A containing B56-delta helps control cell growth, differentiation, and the formation of connections between nerve cells. Mutations in PPP2R5D impair this regulatory function, leading to abnormal neuronal development and disrupted communication networks in the brain, which results in the intellectual disability and developmental delays seen in affected individuals.
Management focuses on supportive care and early intervention to maximize developmental potential. Physical therapy is often used to address hypotonia and improve motor skills, while speech therapy helps with communication delays. Educational support tailored to the individual's cognitive level is essential for learning. If seizures are present, anticonvulsant medications may be prescribed. There is currently no cure for the genetic condition, but a multidisciplinary approach involving neurologists, developmental pediatricians, and therapists can significantly improve quality of life and functional independence.
Most cases of PPP2R5D-related intellectual disability are caused by de novo mutations, meaning they occur spontaneously in the individual and are not inherited from a parent. However, in rare instances, a parent may carry the mutation without showing symptoms or with milder symptoms. Diagnosis is confirmed through genetic testing, specifically sequencing of the PPP2R5D gene, which can identify the specific amino acid changes that disrupt the B56-delta protein. Genetic counseling is recommended for families to understand the recurrence risk, which is generally low for de novo cases but higher if a parent is found to carry the mutation.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.