PNMAL1
PNMA1 Gene: The Gatekeeper of Pain Perception and More
Description
The PNMA1 gene, nestled within the 7th chromosome, encodes a protein called paraneuronally expressed axonal membrane protein-1 (PNMA1). This protein plays a pivotal role in the transmission of pain signals in the nervous system. It's located on the surface of nerve cells and helps regulate the flow of ions across the cell membrane, affecting how electrical signals are generated and transmitted.
Associated Diseases
Mutations or alterations in the PNMA1 gene are primarily linked to:
- Congenital Insensitivity to Pain and Anhidrosis (CIPA): A rare genetic disorder characterized by the complete inability to sense pain and the absence of sweating. Individuals with CIPA experience severe burns, fractures, and other injuries without feeling any discomfort, making it a life-threatening condition.
- Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV): A disorder that affects nerve function in the arms, legs, hands, and feet. Symptoms include reduced or absent pain sensation, muscle weakness, and difficulty maintaining body temperature.
Did you Know ?
- CIPA, caused by mutations in the PNMA1 gene, affects approximately 1 in 100,000 to 250,000 people worldwide, making it an extremely rare condition.
