MAX

Function

Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MYC or MAD which recognizes the core sequence 5'-CAC[GA]TG-3'. The MYC:MAX complex is a transcriptional activator, whereas the MAD:MAX complex is a repressor. May repress transcription via the recruitment of a chromatin remodeling complex containing H3 'Lys-9' histone methyltransferase activity. Represses MYC transcriptional activity from E-box elements.

Involvement in disease

Pheochromocytoma

PCC

A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Polydactyly-macrocephaly syndrome

PDMCS

An autosomal dominant syndrome characterized by progressive macrocephaly and post-axial polydactyly, a condition defined by the occurrence of supernumerary digits affecting the fifth finger and/or toe. Additional variable features include ocular anomalies, global developmental delay and autistic traits.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Reversible lysine acetylation might regulate the nuclear-cytoplasmic shuttling of specific Max complexes.

Sequence Similarities

Belongs to the MAX family.

Tissue Specificity

High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.

Cellular localization

• Nucleus
• Cell projection
• Dendrite

Alternative names

BHLHD4, MAX, Protein max, Class D basic helix-loop-helix protein 4, Myc-associated factor X, bHLHd4

Database links

swissprot:P61244 entrezGene:4149 omim:154950

Other research areas

• Oncology