CNIH4
CNIH4: A Crucial Protein Involved in Neurological Development and Disease
Description
CNIH4 (Cornichon Homolog 4) is a protein that plays a vital role in various biological processes, particularly in the development and function of the nervous system. It is highly expressed during embryonic development and is involved in the formation of neural structures, including the spinal cord, brain, and optic nerve. CNIH4 is also found in adult neurons and is believed to contribute to neuronal survival and function.
Associated Diseases
Mutations in the CNIH4 gene have been linked to several neurological disorders, including:
- Bodi-Bode Syndrome: A rare genetic disorder characterized by intellectual disability, microcephaly, and distinctive facial features.
- Microcephaly: A condition where the brain is abnormally small.
- Epilepsy: A neurological disorder characterized by recurrent seizures.
- Retinitis pigmentosa: A degenerative eye condition that leads to progressive vision loss.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by Bodi-Bode Syndrome, making it a rare condition. However, it is the most common genetic cause of microcephaly.
