Zinc finger and BTB domain-containing protein 47 (ZBTB47)

Zinc finger and BTB domain-containing protein 47 (ZBTB47) is a nuclear transcription factor that contains a classical Cys2His2 zinc finger domain and a BTB/POZ protein-protein interaction domain[1][4]. It is predicted to regulate transcription by RNA polymerase II, primarily by binding DNA and repressing gene expression through interactions with corepressors such as CBFA2T3[1]. ZBTB47 is strongly expressed in the central nervous system and plays a critical role in neurological development[2][4]. Variants in ZBTB47—particularly de novo missense mutations—are associated with a novel neurodevelopmental disorder characterized by global developmental delay, intellectual disability, seizures, hypotonia, abnormal gait, and movement disorders[2][4]. While ZBTB47 is structurally related to other zinc finger proteins implicated in brain development and disease, its precise biological and pathogenic mechanisms remain under investigation and it is not currently a direct target for drug therapy[4]. ZBTB47 is an emerging candidate gene for neurodevelopmental disorders rather than an established therapeutic target. It functions as a transcriptional repressor in the nucleus and is most highly expressed in neural tissue[1][2][4]. Disruption of its function can lead to severe neurological defects, but no drugs nor direct mechanism-based therapies exist to target this protein at present.

Other names

ZBTB47ZNF651Zinc finger protein 651KIAA1190DKFZp434N0615ZBT47_HUMAN

Not applicable. No therapeutics are currently designed to act directly on ZBTB47.