INTS1

INTS1 is a protein that in humans is encoded by the INTS1 gene. The INTS1 gene is located on chromosome 7 and is part of the Integrator Complex Subunit 1. This protein is involved in the processing of small nuclear RNAs, which are critical components of the splicing machinery in cells.

Function

The Integrator Complex is a large protein complex that is involved in the processing of small nuclear RNAs (snRNAs). The INTS1 protein is a subunit of this complex and plays a crucial role in the processing of these RNAs. The Integrator Complex is responsible for the 3' end processing of the snRNAs, which are critical components of the spliceosome, the machinery that carries out RNA splicing in the cell.

Clinical Significance

Mutations in the INTS1 gene have been associated with a variety of diseases. For example, a mutation in this gene has been linked to microcephaly, a condition characterized by a smaller than normal head size. Other conditions associated with mutations in the INTS1 gene include intellectual disability and seizures.

Research

Research into the INTS1 gene and its associated protein is ongoing. Scientists are particularly interested in understanding how mutations in this gene lead to the various conditions associated with it. This research could potentially lead to new treatments for these conditions.

See Also

• Integrator Complex
• Microcephaly
• Intellectual disability
• Seizures