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MAX MYC associated factor X

Gene ID: 4149, updated on 21-Mar-2023
Gene type: protein coding
Also known as: bHLHd4


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. [provided by RefSeq, Aug 2012]

Associated conditions

See all available tests in GTR for this gene

Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
GeneReviews: Not available
Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
GeneReviews: Not available
Hereditary pheochromocytoma-paragangliomaSee labs
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
PheochromocytomaSee labs
Seventy-five genetic loci influencing the human red blood cell.
GeneReviews: Not available

Copy number response

Copy number response

No evidence available (Last evaluated 2021-07-20)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-20)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 14; NC_000014.9 (65006101..65102695, complement)
Total number of exons:


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