HIC2

HIC2 (also known as HIC ZBTB Transcriptional Repressor 2) is a protein that in humans is encoded by the HIC2 gene. It is a member of the POK (POZ and Krüppel) family of transcriptional repressors.

Function

The HIC2 protein is a transcriptional repressor that plays a role in the regulation of cell growth and differentiation. It is involved in the development of several tissues, including the nervous system, heart, and craniofacial structures. Mutations in the HIC2 gene have been associated with mental retardation, congenital heart defects, and craniofacial anomalies.

Structure

The HIC2 protein is composed of 548 amino acids and has a molecular weight of approximately 60 kDa. It contains a POZ domain at its N-terminus and five Krüppel-type zinc finger domains at its C-terminus. The POZ domain mediates protein-protein interactions, while the zinc finger domains are responsible for DNA binding.

Clinical significance

Mutations in the HIC2 gene have been linked to a rare genetic disorder known as Golz syndrome, which is characterized by mental retardation, congenital heart defects, and craniofacial anomalies. The exact mechanism by which these mutations cause Golz syndrome is not fully understood, but it is thought to involve disruption of normal HIC2 function, leading to abnormal cell growth and differentiation.

See also

• POK (POZ and Krüppel)
• Cell growth
• Differentiation (biology)
• Golz syndrome

References

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