KDM6A (UTX) encodes a histone demethylase enzyme. In vitro and in vivo experiments examining KDM6A depletion and overexpression in bladder tumor cells support a role for KDM6A as a suppressor of tumor growth and cell migration. It is found to be mutated at a low frequency in ccRCC tumors (1%). How KDM6A inactivation contributes to ccRCC tumor biology remains to be determined.

This gene is a known cancer gene.

This gene is a known cancer gene.

KDM6A is a histone demethylase. In a recent study, KDM6A was noted to be a recurrently altered gene in a subset of relapsed AML cases and may represent a mechanism of cytarabine resistance. These alterations include partial gene deletions and mutations that lead to decreased KDM6A expression/function.