HNRNPLL
Description
The HNRNPLL (heterogeneous nuclear ribonucleoprotein L like) is a protein-coding gene located on chromosome 2.
Heterogeneous nuclear ribonucleoprotein L-like (hnRNPLL) is a protein encoded by the HNRNPLL gene in humans. It acts as a master regulator of activation-induced alternative splicing in T cells, particularly influencing the splicing of CD45 (PTPRC), a tyrosine phosphatase crucial for T-cell development and activation.
hnRNPLL is a RNA-binding protein that regulates alternative splicing for multiple target mRNAs, including PTPRC/CD45 and STAT5A. It is essential for the alternative splicing of PTPRC.
HNRNPLL is also known as HNRPLL, SRRF.
Associated Diseases
- common variable immunodeficiency
- classic Hodgkin lymphoma
- combined immunodeficiency with skin granulomas
- severe combined immunodeficiency due to CARD11 deficiency
- reticular dysgenesis
- Okt4 epitope deficiency
- immunodeficiency 18
- severe combined immunodeficiency due to CTPS1 deficiency
- Wiskott-Aldrich syndrome
- agammaglobulinemia 7, autosomal recessive
- immunodeficiency 105
- immunodeficiency, common variable, 4
- inborn error of immunity
