Literature associating HNRNPH1 and congenital myasthenic syndrome
Heterogeneous nuclear ribonucleoprotein H1 (H); This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG); RNA binding motif containing
Synonyms: HNRNPH1, HNRNPH1p, hHNRNPH1, D6R9D3, D6R9T0 ...