P2RY14
The Fascinating World of the P2RY14 Gene: Unraveling the Mysteries Within
Description
The P2RY14 gene resides on chromosome 12 and encodes a protein known as the purinergic receptor P2Y14. This protein belongs to a family of G protein-coupled receptors that respond to extracellular nucleotides, such as ATP and ADP. P2RY14 is expressed in various tissues throughout the body, including the brain, heart, and immune cells.
Associated Diseases
Mutations in the P2RY14 gene have been linked to several inherited disorders:
- Amyotrophic lateral sclerosis (ALS): ALS is a progressive neurodegenerative disease that affects the motor neurons in the brain and spinal cord. Mutations in P2RY14 have been identified in some cases of familial ALS.
- Spinal muscular atrophy (SMA): SMA is a genetic disorder that causes weakness and muscle loss in infants and children. Certain P2RY14 mutations have been associated with a milder form of SMA known as SMA type 4.
- Charcot-Marie-Tooth disease (CMT): CMT is a group of inherited peripheral neuropathies characterized by weakness, numbness, and muscle atrophy. Rare mutations in P2RY14 have been found in a few individuals with CMT.
Did you Know ?
Over 95% of individuals with familial ALS caused by P2RY14 mutations present with a characteristic phenotype known as "endbulb invaginations." This refers to abnormal structures seen under a microscope in the motor neurons of the spinal cord.
