Humpath.com - Human pathology

Home > A. Molecular pathology > ASXL1

ASXL1

Wednesday 8 March 2017

WKP

Definition: Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene.

Function

In Drosophila, the Additional sex combs (Asx) gene encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo.

The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci.

The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes.

Although the function of the protein encoded by this gene is not known, it does show some sequence similarity to the protein encoded by the Drosophila Asx gene.

Pathology

- ASXL1 mutations in myeloid neoplasms (28027687)

Paywall references

- ASXL1 mutations in myeloid neoplasms: pathogenetic considerations, impact on clinical outcomes and survival. Alvarez Argote J, Dasanu CA. Curr Med Res Opin. 2017 Jan 24:1-7. doi : 10.1080/03007995.2016.1276896
PMID: 28027687