TTC30A
TTC30A: A Gene with a Central Role in Neurological Health
Description
The TTC30A gene is located on chromosome 15q24.1 and encodes a protein that plays a pivotal role in the development and function of the nervous system. The TTC30A protein is involved in regulating gene expression and cell differentiation, particularly during early embryonic development. It is expressed in various tissues, including the brain, spinal cord, and muscles.
Associated Diseases
Mutations in the TTC30A gene have been linked to several neurological disorders, including:
- Joubert Syndrome: A rare genetic condition characterized by a distinctive brain malformation called the molar tooth sign. It can also cause intellectual disability, eye movement abnormalities, and breathing difficulties.
- Nephronophthisis: A disease that affects the kidneys, leading to progressive loss of kidney function and eventual end-stage renal failure.
- Leber Congenital Amaurosis (LCA): A rare inherited eye condition that causes severe visual impairment or blindness from birth.
- Autism Spectrum Disorder (ASD): A complex developmental disorder characterized by social difficulties, repetitive behaviors, and restricted interests.
Did you Know ?
Approximately 1 in 80,000 newborns are affected by Joubert Syndrome, which is caused by mutations in the TTC30A gene or other genes involved in the same pathway.
