TDRP
TDRP Gene: A Comprehensive Guide
Description
The TDRP (Tudor domain-containing protein) gene provides instructions for making a protein that plays a crucial role in the regulation of messenger RNA (mRNA) stability and translation. mRNA contains the genetic code for synthesizing proteins, and the TDRP protein influences the efficiency and timing of protein production.
The TDRP gene is located on chromosome 11 and spans approximately 200,000 base pairs. It consists of 17 exons and encodes a protein with two major domains: an N-terminal Tudor domain and a C-terminal RNA recognition motif (RRM). The Tudor domain recognizes specific molecular signatures on mRNA, while the RRM binds directly to mRNA sequences.
Associated Diseases
Mutations in the TDRP gene have been linked to several diseases, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a fatal neurodegenerative disease that affects motor neurons, leading to progressive muscle weakness and paralysis. TDRP mutations are associated with approximately 1-5% of ALS cases.
- Frontotemporal dementia (FTD): FTD is a neurodegenerative disorder characterized by changes in behavior, personality, and language. Mutations in TDRP account for a small percentage of FTD cases.
- Spinocerebellar ataxia type 10 (SCA10): SCA10 is a rare hereditary neurological disorder that affects coordination and balance. TDRP mutations are responsible for approximately 20% of SCA10 cases.
Did you Know ?
- Approximately 1 in 1000 people carry a TDRP gene mutation that can increase their risk of ALS.
