Lysine demethylase 6B is a protein that in humans is encoded by the KDM6B (JMJD3) gene.

KDM6B was found to be expressional increased during cardiac and endothelial differentiation of murine embryonic stem cells.

A small molecule inhibitor (GSK-J1) has been developed to inhibit the jumonji domain of KDM6 histone demethylase family to modulate proinflammatory response in macrophages.

Mutations of the KDM6B gene may cause neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, which was first described in 2019 by Stolerman et al.

Standard laboratory exome sequencing can be used to identify the KDM6B gene variant.

A 2019 study on symptoms from KDM6B variations reported:

A further 2023 international study reported on the following clinical features among individuals with (likely) pathogenic KDM6B variants:

For patients reporting intellectual disability and/or developmental delay, approximately 0.12% have de novo alterations in the KDM6B gene.