Gene: SNORA100

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: HNRNPU

Alternate names for this Gene: DEE54|EIEE54|GRIP120|HNRNPU-AS1|HNRPU|SAF-A|SAFA|U21.1|hnRNP U|pp120

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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q44

Description of this Gene: heterogeneous nuclear ribonucleoprotein U

Type of Gene: protein-coding

rs1135401734 in SNORA100;HNRNPU gene and Epileptic encephalopathy PMID 28815871 2017 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.