PURA : purine rich element binding protein A
Description
The PURA (purine rich element binding protein A) is a protein-coding gene located on chromosome 5.
The PURA gene provides instructions for making a protein called Pur-alpha (Purα), which binds to DNA and RNA. This protein has multiple roles in cells, including controlling gene activity (gene transcription) and aiding in DNA copying (replication). The Purα protein is crucial for normal brain development. It helps direct the growth and division of nerve cells (neurons) and may be involved in the formation or maturation of myelin, the protective substance that covers nerves and promotes efficient nerve impulse transmission.
The Pur-alpha protein is a probable transcription activator that specifically binds to the purine-rich single strand of the PUR element located upstream of the MYC gene. It may also play a role in the initiation of DNA replication and in recombination.
PURA is also known as MRD31, NEDRIHF, PUR-ALPHA, PUR1, PURALPHA.
Associated Diseases
- Mental retardation, autosomal dominant 31
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- PURA syndrome
- 5q31.3 microdeletion syndrome
