HNRNPH2-related disorders (original) (raw)

HNRNPH2-related disorder is considered as a neurodevelopmental disorder (NDD) caused by heterozygous mutation in the HNRNPH2 gene on the chromosome Xq22. This gene (GenBank: NM_019597.4) encodes a member of a family of ubiquitous heterogeneous nuclear ribonucleoproteins (HNRNP). The HNRNPs are a large group of RNA binding proteins with distinct nucleic acid binding properties. These ribonucleoproteins act as a shuttle between the nucleus and the cytoplasm and act on pre-mRNA to positively or negatively affect spliceosome assembly at nearby splice sites, thereby controlling pre-mRNA splicing.