IDH1 : isocitrate dehydrogenase (NADP(+)) 1

Understanding the IDH1 Gene: A Vital Player in Cellular Function

Description:

The IDH1 gene plays a crucial role in the human body by providing instructions for creating an enzyme known as isocitrate dehydrogenase 1 (IDH1). This enzyme resides primarily in the cytoplasm, the fluid-filled space within cells, and also in peroxisomes, small sacs involved in molecule processing. IDH1 catalyzes the conversion of isocitrate to 2-ketoglutarate, generating NADPH, a vital molecule for various cellular processes.

Associated Diseases:

Mutations in the IDH1 gene have been linked to several medical conditions, including:

• Glioblastoma: An aggressive brain cancer
• Acute Myeloid Leukemia (AML): A type of blood cancer
• Cholangiocarcinoma: Cancer of the bile ducts

Did you Know ?

Approximately 80% of glioblastomas harbor mutations in the IDH1 gene.