SYNDIG1
Description
The SYNDIG1 gene (synaptojanin-1) plays a vital role in the regulation of cell division and development. It encodes a protein that acts as a lipid phosphatase, involved in the remodeling of cell membranes during various cellular processes. SYNDIG1 is crucial for the proper functioning of synapses, the junctions between nerve cells, and its dysregulation can contribute to developmental and neurological disorders.
Associated Diseases
- Intellectual disability
- Autism spectrum disorder
- Schizophrenia
- Epilepsy
- Cerebral palsy
- Spinal muscular atrophy
- Rett syndrome
- Joubert syndrome
Did you know?
Mutations in SYNDIG1 have been linked to a rare genetic disorder called "syndromic intellectual disability with hypotonia, microcephaly, and facial dysmorphism".
