XB-FEAT-5858667

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Revision as of 07:10, 22 May 2018 by imported>Xenbase (→‎asxl3)
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asxl3

This is the community wiki page for the gene asxl3 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

summary from NCBI

[relates to human gene] his 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]

Nomenclature changes

05.22.2018 Human name has changed for Entrez Gene: 80816. From additional sex combs like 3, transcriptional regulator to ASXL transcriptional regulator 3