GATAD2AB

GATAD2AB commonly refers to two related human genes, GATAD2A and GATAD2B. Both genes encode proteins that function as core subunits of the Nucleosome Remodeling and Deacetylation (NuRD) complex, a multi-subunit chromatin remodeling and histone deacetylase machinery involved in transcriptional repression and development. As part of NuRD, GATAD2A and GATAD2B help recruit and stabilize the complex at specific genomic loci, coordinating chromatin remodeling with histone deacetylation to regulate gene expression during differentiation and embryonic development. The two genes are paralogs and share substantial sequence similarity, but they can differ in tissue distribution and temporal expression patterns, implying both overlapping and distinct roles in development and homeostasis.

The protein products interact with other NuRD components, including MTA family members (MTA1/2/3) and CHD3/CHD4, as well as RBBP4/RBBP7 and HDAC1/2, contributing to the assembly, targeting, and enzymatic activity of NuRD. This interaction network supports repressive chromatin states and dynamic remodeling in response to developmental cues and environmental signals. Their precise targets are context-dependent and have been studied in various model systems.

Clinical significance is most clearly established for GATAD2B. De novo variants in GATAD2B have been reported in individuals with neurodevelopmental disorders characterized by developmental delay or intellectual disability, hypotonia, feeding difficulties, and often seizures or autistic features. Reports of disease associations for GATAD2A are more limited and less consistent at present, and ongoing research aims to clarify any causal relationships.

See also: Nucleosome Remodeling and Deacetylation complex. In genetic testing, GATAD2A and GATAD2B are annotated separately.