GABPB1
GA binding protein transcription factor subunit beta 1
Summary
This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs778242078 | 15:50,578,304 | G/C | — | uncertain significance |
| rs201534979 | 15:50,593,088 | C/T | — | uncertain significance |
| rs80042819 | 15:50,593,417 | C/A | — | likely benign |
| rs8031031 | 15:50,597,324 | C/T | intron variant | — |
| rs7181866 | 15:50,610,792 | A/G | intron variant | — |
| rs12594956 | 15:50,621,834 | C/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.