Ankyrin repeat domain 11

Ankyrin repeat domain 11 (ANKRD11) is a gene that encodes a protein in humans. This protein is known to play a significant role in transcriptional regulation, the process by which genes are turned on and off.

Function

The ANKRD11 protein is a transcription factor, a type of protein that binds to specific sequences of DNA to control the rate of transcription of genetic information from DNA to messenger RNA. This protein contains several ankyrin repeats, which are common in proteins involved in specific protein-protein interactions.

ANKRD11 is known to interact with p160 coactivator proteins, which are necessary for the transcriptional activity of steroid hormone receptors. This interaction suggests that ANKRD11 may play a role in hormone receptor-mediated transcription.

Clinical significance

Mutations in the ANKRD11 gene are associated with KBG syndrome, a rare genetic disorder characterized by distinctive facial features, intellectual disability, and skeletal abnormalities.

Research

Research into the ANKRD11 gene and its associated protein is ongoing, with studies focusing on its role in transcriptional regulation and its potential involvement in other genetic disorders.

See also

• Ankyrin repeat
• Transcription factor
• KBG syndrome