This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent;activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by;macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay,;seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related;pseudogenes exist on chromosomes 2 and X.
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Ohkura, T; Taniguchi, S; et al. Detection of the novel autoantibody (anti-UACA antibody) in patients with Graves' disease. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 321:432-440(2004).