Gene: LOC100506321

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs55658675 in LOC100506321;MAX gene and Duration of sleep PMID 30846698 2019 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

rs387906651 in LOC100506321;MAX gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome 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 27838885 2017 Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation.

rs387906651 in LOC100506321;MAX gene and Neoplastic Syndromes, Hereditary PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 27838885 2017 Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation.

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.