HNRNPH1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HNRNPH1 wild-type allele is located in the vicinity of 5q35.3 and is approximately 21 kb in length. This allele, which encodes heterogeneous nuclear ribonucleoprotein H, plays a role in the regulation of pre-mRNA alternative splicing. Mutation of the gene is associated with neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects.

**Synonyms:** - HNRPH - HNRPH1 - Heterogeneous Nuclear Ribonucleoprotein H1 (H) Gene - Heterogeneous Nuclear Ribonucleoprotein H1 wt Allele - NEDCDS - hnRNPH