CYTH1
CYTH1: The Gene with a Multifaceted Role in Human Health
Description
CYTH1 (cytosol aminopeptidase 1) is a gene located on chromosome 11 that encodes an enzyme of the same name. This enzyme plays a crucial role in several essential cellular processes, including protein degradation, amino acid metabolism, and the regulation of cell growth and differentiation.
Associated Diseases
Mutations in the CYTH1 gene have been linked to a range of human diseases, including:
- Cystinuria: An inherited condition characterized by excessive excretion of amino acids, particularly cystine, in the urine.
- Neuronal ceroid lipofuscinosis (NCL): A group of rare, progressive neurodegenerative diseases that affect children and young adults.
- Infantile amaurotic familial idiocy: A fatal neurological disorder that causes blindness, seizures, and intellectual disabilities.
Did you Know ?
Approximately 1 in 7,000 individuals worldwide is affected by cystinuria, making it the most common amino acid transport disorder.
