PATL1
Description
The PATL1 (PAT1 homolog 1, processing body mRNA decay factor) is a protein-coding gene located on chromosome 11.
PATL1 is a protein that is involved in the degradation of mRNAs. It interacts with other proteins that are involved in this process, and it is also important for the formation of P-bodies, which are structures that contain mRNAs that are being degraded.
PATL1 is a RNA-binding protein that plays a crucial role in the degradation of mRNAs through a process called deadenylation-dependent decapping. This process involves removing the poly(A) tail and then the 5' cap of the mRNA, leading to its breakdown. PATL1 acts as a scaffold protein, connecting the machinery responsible for deadenylation and decapping. This scaffolding function is essential for the assembly of cytoplasmic mRNA processing bodies (P-bodies), which are sites of mRNA degradation. PATL1's involvement in mRNA degradation has been observed in various studies, with specific references supporting its role in this process. [PubMed:17936923, PubMed:20543818, PubMed:20584987, PubMed:20852261]
PATL1 is also known as Pat1b, hPat1b.
Associated Diseases
- spinocerebellar ataxia type 20
- isolated dystonia
- spinocerebellar ataxia type 15/16
- X-linked dystonia-parkinsonism
- X-linked parkinsonism-spasticity syndrome
- torsion dystonia 2
- tremor, hereditary essential, 6
- optic atrophy 2
- torsion dystonia 7
- dystonia 5
- episodic ataxia type 1
- corticobasal syndrome
