Disease-gene associations mined from literature

Literature associating HNRNPH1 and congenital myasthenic syndrome

HNRNPH1 [ENSP00000349168]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM