Cat. No.: GENE0009

HNRNPU

Description Heterogeneous Nuclear Ribonucleoprotein U
Category Protein Coding
GIFtS 41
GC id GC01M244844
Score 33.71
Entrez Gene Summary This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017]
GeneCards Summary HNRNPU (Heterogeneous Nuclear Ribonucleoprotein U) is a Protein Coding gene. Diseases associated with HNRNPU include Developmental And Epileptic Encephalopathy 54 and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include RNA binding and kinase activity. An important paralog of this gene is HNRNPUL1.
Gene Database GeneCards: The Human Gene Database
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