Gene: MAX

Alternate names for this Gene: bHLHd4

Gene Summary: The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.3

Description of this Gene: MYC associated factor X

Type of Gene: protein-coding

rs4902358 in MAX gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs1271582 in MAX gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1555340550 in MAX gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 1459463 1992 Biphasic effect of Max on Myc cotransformation activity and dependence on amino- and carboxy-terminal Max functions.

PMID 7630640 1995 Determination of sequences responsible for the differential regulation of Myc function by delta Max and Max.

PMID 1730412 1992 Max: functional domains and interaction with c-Myc.

PMID 22452945 2012 MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

PMID 21685915 2011 Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

PMID 23551045 2013 Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.

rs387906650 in MAX gene and Neoplastic Syndromes, Hereditary PMID 21685915 2011 Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

PMID 23551045 2013 Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.

PMID 22452945 2012 MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

PMID 12553908 2003 X-ray structures of Myc-Max and Mad-Max recognizing DNA. Molecular bases of regulation by proto-oncogenic transcription factors.

rs201743423 in MAX gene and Pheochromocytoma PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 21685915 2011 Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

PMID 22452945 2012 MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

PMID 26070438 2015 Functional and in silico assessment of MAX variants of unknown significance.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.