Aliases for ASXL3 Gene
External Ids for ASXL3 Gene
Previous HGNC Symbols for ASXL3 Gene
Previous GeneCards Identifiers for ASXL3 Gene
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]
GeneCards Summary for ASXL3 Gene
ASXL3 (Additional Sex Combs Like 3, Transcriptional Regulator) is a Protein Coding gene. Diseases associated with ASXL3 include Bainbridge-Ropers Syndrome and Bohring-Opitz Syndrome. An important paralog of this gene is ASXL1.
UniProtKB/Swiss-Prot for ASXL3 Gene
Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity).