ZBTB20

From WikiMD's medical encyclopedia

ZBTB20 is a protein that in humans is encoded by the ZBTB20 gene. It is a member of the POK (POZ and Krüppel) family of transcription factors.

Function

The ZBTB20 protein is a transcriptional repressor that binds to DNA sequences containing a consensus core motif. The protein is thought to play a role in the development and function of the central nervous system, particularly in the hippocampus and cerebellum. It is also involved in the regulation of glucose homeostasis and insulin secretion.

Clinical significance

Mutations in the ZBTB20 gene have been associated with Primrose syndrome, a rare disorder characterized by distinctive facial features, intellectual disability, and other physical abnormalities.

Structure

The ZBTB20 protein contains a BTB/POZ domain, which is involved in protein-protein interactions, and several Krüppel-type zinc finger domains, which are involved in DNA binding.

Expression

ZBTB20 is expressed in various tissues, with the highest levels found in the brain, liver, and pancreas.

See also

References


External links

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