ISL1

ISL1 (Insulin gene enhancer protein ISL-1) is a protein that in humans is encoded by the ISL1 gene. It is a member of the LIM/homeodomain family of transcription factors.

Function

ISL1 is a transcription factor that is expressed in the second heart field, a population of cardiac progenitor cells that contribute to the formation of the right ventricle and outflow tract. It is also expressed in motor neurons and in the pancreas, where it is involved in the development of insulin-producing beta cells.

Clinical significance

Mutations in the ISL1 gene have been associated with congenital heart defects and type 2 diabetes. In addition, ISL1 has been implicated in the development of certain types of cancer, including pancreatic cancer and neuroblastoma.

Research

Research into the role of ISL1 in heart development has led to the discovery of new potential targets for the treatment of congenital heart disease. In addition, studies on the role of ISL1 in the pancreas could lead to new treatments for diabetes.

See also

• LIM homeobox
• Transcription factor
• Congenital heart defect
• Type 2 diabetes
• Pancreatic cancer
• Neuroblastoma

References

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