DISEASES

Disease-gene associations mined from literature

Literature associating RARB and microphthalmia

RARB [ENSP00000332296]

Nuclear receptor subfamily 1 group B member 2; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function.

Synonyms:  RARB,  B4DSI3,  D6RBI3,  F1D8S6,  NR1B2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM