TSPY26P
The tpsy26p Gene: Unraveling Its Importance in Human Health
Description
The tpsy26p gene, also known as tripeptidyl peptidase 26 protease, is a crucial gene located on chromosome 17p11.2. It plays a vital role in protein degradation and remodeling, ensuring the proper functioning of cellular processes. Tripeptidyl peptidase enzymes are responsible for the hydrolysis of tripeptides, which are short chains of three amino acids.
Associated Diseases
Mutations in the tpsy26p gene have been linked to several rare genetic disorders, including:
- Friedreich's ataxia: A progressive neurological disorder characterized by muscle weakness, gait abnormalities, and speech difficulties.
- Spinocerebellar ataxia 25: A degenerative neurological disorder affecting coordination, movement, and speech.
- Neurodegenerative ataxia with retained reflexes: A rare form of ataxia characterized by progressive difficulty with movement and coordination, but without loss of reflexes.
Did you Know ?
Approximately 1 in 50,000 people worldwide are affected by Friedreich's ataxia, making it the most common inherited ataxia.
