HNF1B

HNF1B (Hepatocyte Nuclear Factor 1 Homeobox B), also known as TCF2 (Transcription Factor 2), is a protein that in humans is encoded by the HNF1B gene. This protein is a transcription factor that plays a crucial role in the development of several organs, including the liver, kidney, and genital tract.

Function

HNF1B is a member of the homeodomain-containing superfamily of transcription factors. It regulates gene expression in a tissue-specific manner and is involved in the development and functioning of several organs. Mutations in the HNF1B gene can lead to various diseases, including renal cysts and diabetes syndrome (RCAD) and Maturity onset diabetes of the young (MODY5).

Structure

The HNF1B protein is composed of 557 amino acids and has a molecular weight of approximately 63 kDa. It contains a POU-specific domain and a homeodomain, which are both involved in DNA-binding.

Clinical significance

Mutations in the HNF1B gene are associated with a variety of diseases. These include:

• Renal Cysts and Diabetes Syndrome (RCAD): This condition is characterized by renal cysts, diabetes, and abnormalities in the genital tract. It is caused by mutations in the HNF1B gene.

• Maturity Onset Diabetes of the Young (MODY5): This form of diabetes typically develops before the age of 25 and is caused by mutations in the HNF1B gene.

See also

• HNF1A
• Hepatocyte Nuclear Factors
• Homeobox