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

Gene: COX20

Alternate names for this Gene: FAM36A|MC4DN11

Gene Summary: This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q44

Description of this Gene: cytochrome c oxidase assembly factor COX20

Type of Gene: protein-coding