SNRPE dysregulation is implicated in multiple cancers, influencing proliferation and therapy resistance:
Targeting SNRPE triggers pyroptosis (inflammatory cell death) and enhances NK cell-mediated antitumor immunity .
Data from The Human Protein Atlas and Cancer Genetics Web highlight SNRPE’s expression in :
Cancer Type | PubMed Publications | Clinical Relevance |
---|---|---|
Liver | 2 | Correlated with advanced-stage tumors |
Acute Lymphocytic Leukemia | 1 | Potential diagnostic marker |
Bladder | 1 | Overexpression in metastatic variants |
Mutations in SNRPE are linked to hypotrichosis simplex type 11 (HYPT11), an autosomal-dominant hair loss disorder :
Pathogenic variants:
Mechanism: Mutant SNRPE proteins destabilize hair follicle mRNA splicing, leading to follicular miniaturization .
Prostate cancer: SNRPE inhibitors could suppress AR-driven proliferation, offering a strategy for castration-resistant cases .
Breast cancer: SNRPE knockdown synergizes with immunotherapies by inducing pyroptosis and activating NK cells .
Recent studies highlight novel regulatory mechanisms:
SNRPE is involved in several key processes within the cell:
Mutations in the SNRPE gene have been associated with several disorders:
Recombinant SNRPE protein is used in various research applications, including studies on RNA splicing, autoimmune diseases, and gene expression regulation. The availability of human recombinant SNRPE allows researchers to investigate its function and interactions in a controlled environment, providing insights into its role in cellular processes and disease mechanisms.