The GTF2I gene provides instructions for making two proteins, TFII-I and BAP-135. TFII-I attaches (binds) to specific areas of DNA and helps regulate the activity of other genes. Based on this role, TFII-I is called a transcription factor. This protein is active in the brain and many other tissues in the body. Studies suggest that the TFII-I protein is involved in coordinating cell growth and division, and it may also play a role in controlling the flow of calcium into cells. Studies show it may be important in a process called myelination, which is the formation of the protective coating around nerve cells called the myelin sheath. This coating insulates nerve cells and promotes the rapid transmission of nerve impulses.
Less is known about BAP-135, the other protein produced from the GTF2I gene. The protein is active in B cells, which are a specialized type of white blood cell that protects the body against infection. When a B cell senses a foreign substance (such as a virus), it triggers a series of chemical reactions that instruct the cell to mature, divide, and produce specific proteins called antibodies to fight the infection. The BAP-135 protein is turned on as part of this series of chemical reactions.
Other Names
BAP-135; BAP135; Bruton tyrosine kinase-associated protein 135; BTK-associated protein, 135kD; BTKAP1; DIWS; GTF2I_HUMAN; IB291; SPIN; TFII-I; WBSCR6
Related Genetics Topics
Identifiers
- NCBI Gene: 2969
- OMIM: 601679
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
