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Gene

MAX

MYC associated transcriptional regulator X

Summary

Cytogenetic location
14q23.3
Coordinates
Chromosome 14: 65,075,127–65,102,517 (GRCh38)
Exons
5 exons across 27.4 kb
Protein
160 amino acids
Inheritance
Autosomal dominant
Also known as
bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8
MANE Select transcript
ENST00000358664.9NM_002382.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Hereditary Pheochromocytoma and Paraganglioma

    • Hereditary pheochromocytomaAutosomal dominant

      Inherited susceptibility to catecholamine-producing tumours of the adrenal medulla.

      • 3 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Biochemical screening and imaging allow tumours to be found and removed early.

    • Hereditary pheochromocytoma-paragangliomaAutosomal dominant

      A group of syndromes (PPGL types 1-7, TMEM127- and MAX-related) in which variants in SDHB, SDHD, SDHC, SDHA, SDHAF2, MAX or TMEM127 raise the risk of pheochromocytoma and paraganglioma.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Regular blood or urine metanephrine testing and periodic whole-body MRI help find tumours early, before they cause blood-pressure crises; relatives can be offered testing.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How MAX is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 14, with a bracket where MAX sits. MAX and 9 genes near it on chromosome 14, from 64,588,822 to 65,588,821.Chromosome 1414q23.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3364.6 Mb64.8 Mb65 Mb65.2 Mb65.4 MbPPP1R36: 64,549,890–64,590,096, forward strandPPP1R36PLEKHG3: 64,704,102–64,750,249, forward strandPLEKHG3SPTB: 64,746,283–64,880,019, reverse strandSPTBCHURC1: 64,914,361–64,957,314, forward strandCHURC1CHURC1-FNTB: 64,914,485–65,061,803, forward strandCHURC1-FNTBGPX2: 64,939,152–64,942,746, reverse strandGPX2RAB15: 64,945,814–64,973,226, reverse strandRAB15FNTB: 64,986,837–65,062,658, forward strandFNTBMAX: 65,075,127–65,102,517, reverse strandMAXFUT8: 65,285,127–65,747,182, forward strandFUT8Diagram of MAX: 5 exons on the reverse strand of chromosome 14Exon 5: 4 known disease-causing sitesExon 4: 17 known disease-causing sitesExon 3: 11 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 4 known disease-causing sitesExon 5: 65,075,127–65,076,663, 1,537 basesExon 4: 65,077,913–65,078,036, 124 bases. 1 variant with a page in exon 4. List themExon 3: 65,093,708–65,093,815, 108 bases. 1 variant with a page in exon 3. List themExon 2: 65,101,546–65,101,572, 27 basesExon 1: 65,102,304–65,102,517, 214 bases543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2 kb of the gene's 27.4 kb; 483 of those bases code for the protein.

How a genome test reads MAX

48

positions in MAX where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 27.4 kb of MAX, introns included, not only the 2 kb of exons.

Variants with a page (2)

The MAX variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A67Dc.200C>AExon 465,078,008Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R33Xc.97C>TExon 365,093,782Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MAX gene: MYC associated transcriptional regulator X. Retrieved 16 October 2026, from https://dantelabs.com/genes/max

Vancouver

Dante Labs. MAX gene: MYC associated transcriptional regulator X [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/max

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