HNRNPH1

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Description

The HNRNPH1 (heterogeneous nuclear ribonucleoprotein H1) is a protein-coding gene located on chromosome 5.

HNRNPH1 is a protein that participates in the hnRNP complexes, which are essential for processing pre-mRNAs into functional mRNAs. It plays a key role in regulating alternative splicing of pre-mRNAs. Along with CUGBP1, HNRNPH1 inhibits the inclusion of exon 11 in the insulin receptor (IR) pre-mRNA within myoblasts. It binds to the IR RNA and exhibits affinity for poly(RG).

HNRNPH1 is also known as HNRPH, HNRPH1, NEDCDS, hnRNPH.

Associated Diseases

• Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects