MAX (gene)

MAX (Myc Associated factor X) is a gene that in humans is encoded by the MAX gene. It is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. This gene is involved in transcription regulation and cell cycle control, and it is essential for cellular proliferation.

Function

The MAX gene is a partner of MYC, a gene that plays a crucial role in cell cycle progression, apoptosis and cellular transformation. The encoded protein is able to interact with MYC and MYC-associated factor X (MAX) to form a sequence-specific DNA-binding complex that recognizes and binds to the core sequence 5'-CAC[GA]TG-3' found in a number of promoters. The MAX-MYC heterodimers activate transcription of target genes involved in cell proliferation and metabolism.

Clinical significance

Mutations in the MAX gene have been associated with hereditary pheochromocytoma, a rare tumor of the adrenal medulla, and paraganglioma, a tumor of the paraganglia. These mutations disrupt the MAX protein's interaction with MYC, leading to uncontrolled cell proliferation.

See also

• MYC (gene)
• Transcription factor
• Cell cycle
• Pheochromocytoma
• Paraganglioma

External links

• MAX at the National Center for Biotechnology Information