protein
Putative Polycomb group protein ASXL3
Gene
ASXL3
Organism
Homo sapiens(9606)
Length
2248 aa
Mass
241,919 Da
ASXL3 is a putative Polycomb group protein encoded in humans by the ASXL3 gene (UniProt: Q9C0F0). It functions as a non-catalytic component of the PR-DUB complex, which mediates deubiquitination of histone H2A and acts as an epigenetic regulator of gene expression. The protein is involved in maintaining transcriptionally repressive states through chromatin modification and functions redundantly with ASXL1 and ASXL2 in chromatin recruitment and transcriptional activation.
ASXL3 is involved in development, cell communication, signaling, cell proliferation, and cell viability. Loss-of-function mutations in ASXL3 are associated with Bainbridge-Ropers syndrome (BRPS), a developmental disorder characterized by psychomotor retardation, feeding difficulties, growth retardation, distinctive facial features, and hand deformities.
ASXL3 is classified as a syndromic autism-associated gene (SFARI Cat 1, UniProt: Q9C0F0), indicating strong evidence for its role in autism spectrum disorder as part of syndromic presentations. Mutations in this chromatin-remodeling protein likely contribute to neurodevelopmental phenotypes through effects on gene regulation during brain development.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
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). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:30664650, PubMed:36180891). The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signaling, cell proliferation and cell viability (PubMed:30664650, PubMed:36180891). ASXL1, ASXL2 and ASXL3 function redundantly in the PR-DUB complex and are essential for chromatin recruitment and transcriptional activation of associated genes (By similarity)
Disease associations
Bainbridge-Ropers syndromeBRPS
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.
Sources
Last updated 5/6/2026, 5:25:54 AM