PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.

ABSTRACT: The importance of chromatin regulation to human disease is highlighted by the growing number of mutations identified in genes encoding chromatin remodeling proteins. While such mutations were first identified in severe developmental disorders, or in specific cancers, several genes have been implicated in both, including the plant homeodomain finger protein 6 (PHF6) gene. Indeed, germline mutations in PHF6 are the cause of the Börjeson-Forssman-Lehmann X-linked intellectual disability syndrome (BFLS), while somatic PHF6 mutations have been identified in T-cell acute lymphoblastic leukemia (T-ALL) and acute myeloid leukemia (AML). Studies from different groups over the last few years have made a significant impact towards a functional understanding of PHF6 protein function. In this review, w

SUBMITTER: Todd MA 

PROVIDER: S-EPMC4488667 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature