KAT6B

KAT6B is a gene that encodes a protein known as lysine acetyltransferase 6B. This protein is involved in the regulation of transcription, a process that is crucial for the normal development and function of cells. Mutations in the KAT6B gene can lead to a variety of genetic disorders, including Genitopatellar syndrome and Ohdo syndrome.

Function

The KAT6B gene provides instructions for making a protein that is involved in the regulation of transcription, the first step in protein production. This protein is part of a group of proteins known as histone acetyltransferases, which modify histones, the structural proteins that help package DNA into a compact, folded form within the cell nucleus.

Clinical significance

Mutations in the KAT6B gene can lead to a variety of genetic disorders. These include Genitopatellar syndrome, a condition characterized by intellectual disability, skeletal abnormalities, and abnormalities of the genitalia. Another condition caused by mutations in the KAT6B gene is Ohdo syndrome, which is characterized by intellectual disability, distinctive facial features, and heart defects.

See also

• Genitopatellar syndrome
• Ohdo syndrome
• Histone acetyltransferase
• Transcription (biology)

References

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