HNRNPLL

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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