RARA Chromosome 17
Retinoic acid receptor alpha
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What This Gene Does
This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]
Gene Info
Gene Group
Retinoic acid receptors
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000131759
Associated Conditions (2)
Tretinoin response
Inborn genetic diseases
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555574254 | Drug Response | drug response | Tretinoin response, Tretinoin response |
| RS2034543510 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |