SHFM1
The SHFM1 Gene: A Comprehensive Guide
Description
The SHFM1 gene, also known as the SH3 and FKBP12 domain containing 1 gene, is located on chromosome 19p13.11. It encodes a protein called SHFM1, which belongs to the ubiquitin-proteasome system (UPS). The UPS plays a crucial role in degrading damaged or misfolded proteins within cells. SHFM1 specifically functions as a ubiquitin ligase, attaching ubiquitin tags to target proteins, marking them for degradation by the proteasome.
Associated Diseases
Mutations in the SHFM1 gene have been linked to several neurodegenerative diseases, including:
- Spinocerebellar ataxia 36 (SCA36): A rare genetic disorder characterized by progressive degeneration of the cerebellum and brainstem, leading to impaired coordination, speech difficulties, and eye movement problems.
- Hereditary spastic paraplegia 25 (SPG25): An inherited condition that affects the motor neurons in the spinal cord, causing progressive weakness and spasticity in the legs and feet.
- Amyotrophic lateral sclerosis (ALS): A neurodegenerative disease affecting motor neurons in the brain and spinal cord, leading to muscle weakness, paralysis, and eventual respiratory failure.
Did you Know ?
SCA36, the most common disease associated with SHFM1 mutations, affects approximately 1 in 500,000 people worldwide.
