Gene Symbol | HNRNPU |
Entrez Gene ID | 3192 |
Full Name | heterogeneous nuclear ribonucleoprotein U |
Synonyms | EIEE54,GRIP120,HNRNPU-AS1,HNRPU,SAF-A,SAFA,U21.1,hnRNP U,pp120 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 54, 617391 (3) |