The HNRNPH2 antibody is a research tool targeting the heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2), a member of the hnRNP family involved in RNA processing. HNRNPH2 plays critical roles in pre-mRNA splicing, transport, and stability by binding to RNA through its RNA recognition motifs (RRMs). It is particularly notable for its association with neurodevelopmental disorders. Mutations in the HNRNPH2 gene, located on the X chromosome, are linked to Bain-type syndromic X-linked intellectual disability (XLID), characterized by developmental delays, intellectual disability, and motor dysfunction.
HNRNPH2 antibodies are widely used in molecular biology to study the protein's expression, localization, and interactions in cellular models. They enable techniques like Western blotting, immunofluorescence, and immunoprecipitation, helping researchers elucidate HNRNPH2's role in RNA metabolism and disease mechanisms. Commercial antibodies are typically developed in hosts like rabbits or mice, with validation across specific applications.
Recent studies highlight HNRNPH2's involvement in regulating alternative splicing of neuronal genes, suggesting its dysfunction disrupts neural development. Antibody-based research continues to uncover how HNRNPH2 mutations impair RNA binding or protein partnerships, providing insights into potential therapeutic targets. These tools remain vital for advancing understanding of XLID and related genetic disorders.