HNRNPH1 wt Allele

Preferred Label : HNRNPH1 wt Allele;

NCIt synonyms : HNRPH1; Heterogeneous Nuclear Ribonucleoprotein H1 wt Allele; hnRNPH; Heterogeneous Nuclear Ribonucleoprotein H1 (H) Gene; HNRPH; NEDCDS;

NCIt 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.;

NCI Metathesaurus CUI : CL1907399;

GenBank Accession Number : BC001348;

Details

Origin ID

C200387;

OMIM relation
- Heterogeneous nuclear ribonucleoprotein h1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q35.3 [NCIt concept]
gene_plays_role_in_process
- Alternate Splicing [NCIt concept]
- Ligand Binding [NCIt concept]
- RNA Processing [NCIt concept]
- RNA-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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