Gene Symbol | RARB |
Entrez Gene ID | 5915 |
Full Name | retinoic acid receptor beta |
Synonyms | HAP,MCOPS12,NR1B2,RARbeta1,RRB2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]. |
Disorder MIM: | |
Disorder Html: | Microphthalmia, syndromic 12, 615524 (3) |