Small nuclear ribonucleoprotein polypeptide N

Protein SNRPN PDB 1d3b

Small nuclear ribonucleoprotein polypeptide N

Small nuclear ribonucleoprotein polypeptide N, also known as SNRPN, is a protein that in humans is encoded by the SNRPN gene. This gene is located on chromosome 15 and plays a crucial role in the assembly of small nuclear ribonucleoproteins (snRNPs). SNRPN is involved in pre-mRNA splicing, a process essential for gene expression.

Structure

SNRPN is a component of the spliceosome, a complex molecular machine responsible for removing introns from pre-mRNA. It contains multiple domains that interact with other proteins and RNA molecules to facilitate splicing. The protein structure of SNRPN is essential for its function in the splicing process.

Function

The primary function of SNRPN is to participate in the formation of snRNPs, which are essential for splicing pre-mRNA. SNRPN interacts with other proteins and RNA molecules to form the core components of the spliceosome. This complex machinery ensures that introns are removed accurately, allowing for the production of mature mRNA transcripts.

Clinical Significance

Mutations in the SNRPN gene can lead to various genetic disorders, including Prader-Willi syndrome and Angelman syndrome. These conditions are characterized by developmental delays, intellectual disabilities, and other physical abnormalities. Understanding the role of SNRPN in splicing is crucial for diagnosing and treating these disorders.