| Entrez Gene ID |
3192 |
| Official Gene Symbol |
HNRNPU (GeneCards) |
| Full name |
heterogeneous nuclear ribonucleoprotein U |
| Location |
1q44 |
| Other ids |
Vega : OTTHUMG00000040396
MIM : 602869
HGNC : HGNC:5048
Ensembl : ENSG00000153187
|
| Other names |
SAFA,
HNRPU,
SAF-A,
U21.1,
pp120,
EIEE54,
GRIP120,
hnRNPU,
HNRNPU-AS1
|
| 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] |