MAX Chromosome 14
MYC associated transcriptional regulator X
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What This Gene Does
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]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
14q23.3
Ensembl
ENSG00000125952
Associated Conditions (17)
Hereditary pheochromocytoma and paraganglioma
Hereditary cancer-predisposing syndrome
Pheochromocytoma
MAX-related disorder
MAX-associated Macrocephaly and Polydactyly syndrome
Polydactyly-macrocephaly syndrome
Immature ovarian teratoma
Neuroblastoma
Diffuse pediatric-type high-grade glioma
H3-wildtype and IDH-wildtype
Diffuse midline glioma
H3 K27M-mutant
Retinoblastoma
Ovarian serous cystadenocarcinoma
Clear cell carcinoma of kidney
susceptibility to
Neoplasm
Key Variants
RS1060500098
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS1176118785
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma
Health Risk
RS1354621995
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS138539686
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS1389763236
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS1395966308
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS140490467
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma
Health Risk
RS143291877
Conflicting classifications of pathogenicity
Pheochromocytoma, Pheochromocytoma
Health Risk
RS148339628
Conflicting classifications of pathogenicity
Pheochromocytoma, MAX-related disorder, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS1566622633
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS200547781
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma
Health Risk
RS2063106020
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, MAX-associated Macrocephaly and Polydactyly syndrome, Polydactyly-macrocephaly syndrome
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS387906649 | Health Risk | Pathogenic | Pheochromocytoma, susceptibility to, Hereditary cancer-predisposing syndrome |
| RS387906650 | Health Risk | Pathogenic | Pheochromocytoma, susceptibility to, Hereditary cancer-predisposing syndrome |
| RS387906651 | Health Risk | Pathogenic | Pheochromocytoma, susceptibility to, Hereditary pheochromocytoma and paraganglioma |
| RS752477890 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS786203385 | Health Risk | Pathogenic | Pheochromocytoma, susceptibility to, Hereditary cancer-predisposing syndrome |
| RS876660073 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2139963878 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma |
| RS587781931 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS786202340 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS1566600827 | Health Risk | risk factor | Pheochromocytoma, susceptibility to, Pheochromocytoma |