Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect.

Abstract excerpt

The titular member of the MAX network of proteins, MYC-associated factor X (MAX), serves an important regulatory function in transcription of E-box genes associated with cell proliferation, differentiation, and apoptosis. Wild type MAX dimerizes with both MYC and MAD, both of which are members of the MAX network, and can promote or repress cell functions as needed. However, pathogenic variants in MAX are known to...

Topics

• Adult
• Amino Acid Sequence
• Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
• Codon, Nonsense
• Female
• Genetic Predisposition to Disease
• Genomic Imprinting
• Humans
• Male
• Middle Aged
• Models, Molecular
• Pedigree
• Pheochromocytoma