This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. Tissue specificity: Expressed in the brain, in oligodendrocytes. Strongly expressed in oligodendrogliomas, while expression is weak to moderate in astrocytomas. Expression in glioblastomas highly variable.
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Protein Aliases: basic domain, helix-loop-helix protein, class B, 1; bHLHb1; bHLHe19; Class B basic helix-loop-helix protein 1; Class E basic helix-loop-helix protein 19; human protein kinase C-binding protein RACK17; olig-2; Oligo2; Oligo2 antibody; Oligodendrocyte transcription factor 2; oligodendrocyte-specific bHLH transcription factor 2; Protein kinase C-binding protein 2; Protein kinase C-binding protein RACK17
Gene Aliases: BHLHB1; BHLHE19; OLIG2; OLIGO2; PRKCBP2; RACK17
UniProt ID: (Human) Q13516