ASXL3 gene

additional sex combs like 3, transcriptional regulator

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Bainbridge-Ropers syndrome

From UniProt:

Bainbridge-Ropers syndrome (BRPS): A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands. [MIM:615485]

Cytogenetic Location: 18q12.1, which is the long (q) arm of chromosome 18 at position 12.1

Molecular Location: base pairs 33,578,577 to 33,751,195 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q12.1, which is the long (q) arm of chromosome 18 at position 12.1
  • BRPS
  • KIAA1713