MAX
Chr 14ADMYC associated transcriptional regulator X
Also known as: PDMCS, bHLHd4
MAX encodes a basic helix-loop-helix leucine zipper transcription factor that forms heterodimers with MYC and MAD proteins to regulate gene expression by binding to E-box DNA sequences. Mutations cause autosomal dominant pheochromocytoma susceptibility and polydactyly-macrocephaly syndrome. The gene is highly constrained against loss-of-function variants (pLI 0.83, LOEUF 0.46), reflecting its essential role in transcriptional regulation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MAX · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Adoptive T Cell Immunotherapy for Advanced Melanoma Using Engineered Lymphocytes
RECRUITINGExploratory Study on in Vivo CAR-T Therapy Targeting CD20 for the Treatment of Hematological Malignancies
NOT YET RECRUITINGThe Skin Microbiome in Graft Versus Host Disease
ACTIVE NOT RECRUITINGA Study to Learn About the Study Medicine Called PF-07799933 in People With Advanced Solid Tumors With BRAF Alterations.
RECRUITINGA Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy
RECRUITINGA Phase 1/1B Study of ST-01156, a Small Molecule RBM39 Degrader, in Patients With Advanced Solid Malignancies
RECRUITINGHome-based Transcranial Direct Current Stimulation in Postpartum Depression: the Feasibility Study and Pilot Study
NOT YET RECRUITINGP4O2 ILD Extension
RECRUITINGAdenovirus Mediated Suicide Gene Therapy With Radiotherapy in Progressive Astrocytoma.
RECRUITINGTesting the Addition of M6620 (VX-970, Berzosertib) to Usual Chemotherapy and Radiation for Head and Neck Cancer
ACTIVE NOT RECRUITINGSafety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
NOT YET RECRUITINGAdministration of Autologous T-Cells Genetically Engineered to Express T-Cell Receptors Reactive Against Neoantigens in People With Metastatic Cancer
RECRUITINGExternal Resources
Links to major genomics databases and tools