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

External Links

NCBI Gene	UniProtKB
PDB	HGNC
OMIM

IthaScore

Sequence Viewer

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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 PubMed

Created on 2019-09-24 12:17:44, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-09-24 12:17:44	The IthaGenes Curation Team	Created

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