SPAG4
The SPAG4 Gene: Unraveling Its Role in Neurodevelopmental Disorders
Description
The SPAG4 gene, also known as sperm-associated antigen 4, plays a crucial role in the production of sperm and the proper functioning of the nervous system. It resides on chromosome 16q13.1 and encodes a protein of the same name.
Associated Diseases
Mutations in the SPAG4 gene have been linked to several neurodevelopmental disorders, including:
- Hereditary spastic paraplegia type 4 (SPG4): A progressive condition characterized by muscle weakness and stiffness in the legs, difficulty walking, and spasticity.
- Charcot-Marie-Tooth disease type 10 (CMT10): A peripheral neuropathy that affects the nerves in the arms and legs, causing weakness, numbness, and pain.
- Intellectual disability and seizures: Some mutations in SPAG4 have also been associated with intellectual disability and seizures.
Did you Know ?
SPG4 is the most common type of hereditary spastic paraplegia, affecting approximately 1 in 100,000 people worldwide.
