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PURA gene

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

PURA gene

The PURA gene provides instructions for making the Pur-alpha protein, which is essential for normal brain development and the regulation of cellular processes.

Normal Function

The PURA gene provides instructions for making a protein called Pur-alpha (Purα), which is able to attach (bind) to DNA and RNA. This protein has multiple roles in cells, including controlling the activity of genes (gene transcription) and aiding in the copying (replication) of DNA.

The Purα protein is important for normal brain development. The protein helps direct the growth and division of nerve cells (neurons). It may also be involved in the formation or maturation of myelin, the protective substance that covers nerves and promotes the efficient transmission of nerve impulses.

Health Conditions Related to Genetic Changes

5q31.3 microdeletion syndrome

5q31.3 microdeletion syndrome is caused by a chromosomal change in which a small piece of chromosome 5 is deleted in each cell. The deleted region typically contains at least three genes, one of which is PURA. This rare condition is characterized by:

  • Severely delayed or impaired development of speech and walking
  • Weak muscle tone (hypotonia)
  • Breathing problems
  • Recurrent seizures (epilepsy) or seizure-like episodes
  • Distinctive facial features

A loss of one copy of the PURA gene is thought to alter normal brain development and impair the function of neurons. Some studies suggest that loss of another nearby gene called NRG2 increases the severity of the signs and symptoms.

PURA syndrome

At least 22 PURA gene mutations have been found to cause PURA syndrome, a condition characterized by intellectual disability, delayed development of speech and walking, and epilepsy. These mutations are thought to reduce the amount of functional Purα protein, which may alter normal brain development and impair the function of neurons.

Other Names for This Gene

  • MRD31
  • PUR-ALPHA
  • PUR1
  • PURALPHA
  • purine-rich single-stranded DNA-binding protein alpha
  • transcriptional activator protein Pur-alpha

Frequently Asked Questions

While both conditions involve the PURA gene, 5q31.3 microdeletion syndrome is generally more severe because it involves the loss of multiple genes, including PURA and often NRG2. Children with the microdeletion typically present with more profound developmental delays, significant breathing problems, and severe hypotonia (low muscle tone) from birth. In contrast, PURA syndrome, caused by mutations in only the PURA gene, may present with slightly less severe motor delays, though both conditions share core features like speech delay, intellectual disability, and epilepsy. The presence of the NRG2 gene deletion in the microdeletion syndrome is associated with increased severity of symptoms, particularly regarding respiratory function and overall developmental trajectory.
Early signs often appear in the first few months of life and include hypotonia, which may manifest as a "floppy" baby who has difficulty holding their head up or reaching for objects. Feeding difficulties, such as poor suck or reflux, are also common. While seizures may not occur immediately, parents should be alert to any unusual episodes of staring, stiffening, or jerking movements. Speech delay is a hallmark, with many children not achieving first words by age two. If a child exhibits a combination of low muscle tone, feeding issues, and developmental milestones that are significantly behind peers, a pediatric neurologist should be consulted for evaluation.
There is no cure for the genetic cause, but early and intensive intervention is crucial for maximizing potential. Speech-language therapy should begin as soon as communication delays are identified, focusing on alternative and augmentative communication (AAC) devices if verbal speech is limited. Physical and occupational therapy are essential to address hypotonia and improve gross and fine motor skills. Anticonvulsant medications are used to manage epilepsy, which can interfere with learning and development if seizures are frequent. A multidisciplinary approach involving neurologists, therapists, and educators is recommended to create an individualized care plan that addresses the unique needs of each child.
Diagnosis is primarily clinical, based on the presence of characteristic features such as developmental delay, hypotonia, and epilepsy. However, genetic testing is required for confirmation. Chromosomal microarray analysis (CMA) is often the first-line test to detect the 5q31.3 microdeletion. If CMA is normal but clinical suspicion remains high, whole exome sequencing or targeted gene panel testing for the PURA gene is performed to identify specific mutations. Genetic counseling is also an important part of the diagnostic process to help families understand the inheritance pattern, which is typically autosomal dominant, often resulting from a de novo (new) mutation in the child.
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.