GeneID: 269
Names
| Common Name: | ADAR | Type: | Gene |
|---|---|---|---|
| Chromosome: | 1 (NC_000001.11) | Locus: | NG_011844.2 (ADAR) |
| HUGO Symbol: | ADAR | Full Name: | adenosine deaminase RNA specific |
| Exons: | 15 | Introns: | 14 |
Description:
ADAR (RNA-specific adenosine deaminase) encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. A variation in ADAR associated with Hb F response to hydroxyurea in sickle cell disease cohorts.
Synonyms: IFI4 , G1P1
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014