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Article

When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopment.

Trends in genetics : TIG - 1 Jul 2026

Nakamura Yuji, Nguyen Toan, Mor Nofar, Torio Christopher J, Thulaseedharan Harikrishna, Dominissini Dan, Gleeson Joseph G

Abstract excerpt

The human ASXL gene family consists of ASXL1, ASXL2, and ASXL3, first described as the additional sex combs (Asx) in Drosophila. The encoded proteins scaffold BAP1-mediated histone H2A deubiquitination. ASXL genes are implicated in pre-cancerous, cancerous, and neurodevelopmental conditions. Truncating mutations predominate and were originally predicted to result in protein loss of function (LOF); however,...

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Identifiers

PMID: 41925445
DOI: 10.1016/j.tig.2026.02.003

Genes

ASXL1
ASXL2
ASXL3
BAP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopment.PMID 41925445Read ↗

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