HYDIN
Description
The HYDIN gene plays a crucial role in the development and function of the nervous system. It encodes a protein called hydin, which is involved in the formation and maintenance of neuronal connections. Hydin is a large protein with multiple domains that interact with other proteins, enabling it to regulate various cellular processes, including cytoskeletal organization, vesicle trafficking, and signal transduction. Mutations in the HYDIN gene can lead to a range of neurological disorders, highlighting its critical role in maintaining neuronal health.
Associated Diseases
- Spastic paraplegia type 52 (SPG52)
- Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)
- Intellectual disability
- Seizures
Did you know?
Hydin is a remarkably large protein, with over 6,000 amino acids. It‘s one of the largest proteins known to be involved in neuronal function.