This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
ASXL3-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
ASXL3-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
ASXL3-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
ASXL3-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
ASXL3-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]
Gene Symbol : ASXL3
Gene Name : Additional sex combs like 3, transcriptional regulator
Chromosome : CHR 18: 335,785,76-337,511,94
Locus : 18q12.1
Alt. Genes : CELA3A
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