MAX Gene (Protein Coding)

MYC Associated Factor X

GC14M065009
GIFtS:
48
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 DN... See more...

Aliases for MAX Gene

Aliases for MAX Gene

  • MYC Associated Factor X 2 3 5
  • BHLHd4 2 3 4
  • Class D Basic Helix-Loop-Helix Protein 4 3 4
  • Protein Max 3 4
  • Myc-Associated Factor X 4
  • MAX Protein 2
  • BHLHd5 2
  • BHLHd6 2
  • BHLHd7 2
  • BHLHd8 2
  • BHLHD4 4
  • MAX 5

External Ids for MAX Gene

Previous GeneCards Identifiers for MAX Gene

  • GC14M062799
  • GC14M059335
  • GC14M063462
  • GC14M063531
  • GC14M064542
  • GC14M065472
  • GC14M045642

Summaries for MAX Gene

Entrez Gene Summary for MAX Gene

  • 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]

GeneCards Summary for MAX Gene

MAX (MYC Associated Factor X) is a Protein Coding gene. Diseases associated with MAX include Hereditary Paraganglioma-Pheochromocytoma Syndromes and Pheochromocytoma. Among its related pathways are Cell Cycle, Mitotic and Pathways Affected in Adenoid Cystic Carcinoma. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding.

UniProtKB/Swiss-Prot Summary for MAX Gene

  • 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.

Gene Wiki entry for MAX Gene

Additional gene information for MAX Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAX Gene

Genomics for MAX Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MAX Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAX on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAX

Top Transcription factor binding sites by QIAGEN in the MAX gene promoter:
  • C/EBPalpha

Genomic Locations for MAX Gene

Latest Assembly
chr14:65,006,101-65,102,695
(GRCh38/hg38)
Size:
96,595 bases
Orientation:
Minus strand

Previous Assembly
chr14:65,472,819-65,569,413
(GRCh37/hg19 by Entrez Gene)
Size:
96,595 bases
Orientation:
Minus strand

chr14:65,472,892-65,569,413
(GRCh37/hg19 by Ensembl)
Size:
96,522 bases
Orientation:
Minus strand

Genomic View for MAX Gene

Genes around MAX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAX Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MAX Gene

Proteins for MAX Gene

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  • Protein details for MAX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61244-MAX_HUMAN
    Recommended name:
    Protein max
    Protein Accession:
    P61244
    Secondary Accessions:
    • A6NH73
    • A8K265
    • A8K4G4
    • A8K824
    • P25912
    • P52163
    • Q14803
    • Q96CY8

    Protein attributes for MAX Gene

    Size:
    160 amino acids
    Molecular mass:
    18275 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MYC or MAD. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with SPAG9. The heterodimer MYC:MAX interacts with ABI1; the interaction may enhance MYC:MAX transcriptional activity.
    Miscellaneous:
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for MAX Gene

    Alternative splice isoforms for MAX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAX Gene

Protein Expression for MAX Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MAX Gene

  • Reversible lysine acetylation might regulate the nuclear-cytoplasmic shuttling of specific Max complexes.
  • Ubiquitination at Lys66
  • Modification sites at PhosphoSitePlus

Other Protein References for MAX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAX Gene

Domains & Families for MAX Gene

Gene Families for MAX Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MAX Gene

InterPro:

Suggested Antigen Peptide Sequences for MAX Gene

GenScript: Design optimal peptide antigens:
  • Myc-associated factor X (MAX_HUMAN)
  • cDNA FLJ76576, highly similar to Homo sapiens MYC associated factor X (MAX), transcript variant 5, mRNA (Q14803_HUMAN)
  • MAX protein (Q6V3B1_HUMAN)
  • MAX protein (Q8IYC6_HUMAN)
  • MYC associated factor X (Q8TAX8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61244

UniProtKB/Swiss-Prot:

MAX_HUMAN :
  • Belongs to the MAX family.
Family:
  • Belongs to the MAX family.
genes like me logo Genes that share domains with MAX: view

Function for MAX Gene

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  6. Cell Lines for research

Molecular function for MAX Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
Max protein,heterodimerizing with MYC,with high affinity for the DNA-binding site of MYC,binds to MAD and MNT

Phenotypes From GWAS Catalog for MAX Gene

Gene Ontology (GO) - Molecular Function for MAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 contributes_to RNA polymerase II regulatory region sequence-specific DNA binding IDA 8425219
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001227 contributes_to DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 8521822
GO:0003677 DNA binding IDA 9399572
genes like me logo Genes that share ontologies with MAX: view
genes like me logo Genes that share phenotypes with MAX: view

Human Phenotype Ontology for MAX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAX Gene

MGI Knock Outs for MAX:
  • Max Max<tm1Rdp>

Animal Models for research

Transcription Factor Targets for MAX Gene

Selected GeneGlobe predicted Target genes for MAX
Targeted motifs for MAX Gene
HOMER Transcription Factor Regulatory Elements motif MAX
  • Consensus sequence: ACCACGTGGTCN Submotif: canonical Cell Type: K562 GEO ID: GSE31477

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAX

Clone products for research

  • Addgene plasmids for MAX

No data available for Enzyme Numbers (IUBMB) for MAX Gene

Localization for MAX Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAX Gene

Nucleus. Cell projection, dendrite.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAX gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA,ISA --
GO:0005634 nucleus IBA,IDA 15358760
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0016605 PML body IEA --
genes like me logo Genes that share ontologies with MAX: view

Pathways & Interactions for MAX Gene

genes like me logo Genes that share pathways with MAX: view

Pathways by source for MAX Gene

1 Sino Biological pathway for MAX Gene
3 Qiagen pathways for MAX Gene
  • ERK Signaling
  • Molecular Mechanisms of Cancer
  • p38 Signaling
1 Cell Signaling Technology pathway for MAX Gene

SIGNOR curated interactions for MAX Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 8521822
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IDA 8425218
GO:0009267 cellular response to starvation IEA --
genes like me logo Genes that share ontologies with MAX: view

Drugs & Compounds for MAX Gene

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(4) Drugs for MAX Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
10058-F4 Pharma C-Myc-Max dimerization inhibitor 0

(1) ApexBio Compounds for MAX Gene

Compound Action Cas Number
10058-F4 C-Myc-Max dimerization inhibitor 403811-55-2
genes like me logo Genes that share compounds with MAX: view

Drug products for research

Transcripts for MAX Gene

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mRNA/cDNA for MAX Gene

9 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAX

Clone products for research

  • Addgene plasmids for MAX

Alternative Splicing Database (ASD) splice patterns (SP) for MAX Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - - -
SP2: - -
SP3: - - - -
SP4: -
SP5:

Relevant External Links for MAX Gene

GeneLoc Exon Structure for
MAX

Expression for MAX Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAX Gene

mRNA expression in normal human tissues for MAX Gene
mRNA expression by GTEx for MAX GenemRNA expression by BioGPS for MAX Gene

Protein differential expression in normal tissues from HIPED for MAX Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.0), CD4 Tcells (13.0), and Monocytes (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAX Gene



Protein tissue co-expression partners for MAX Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAX

SOURCE GeneReport for Unigene cluster for MAX Gene:

Hs.285354

mRNA Expression by UniProt/SwissProt for MAX Gene:

P61244-MAX_HUMAN
Tissue specificity: High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.

Evidence on tissue expression from TISSUES for MAX Gene

  • Nervous system(4.8)
  • Lung(4.5)
  • Intestine(2.9)
  • Adrenal gland(2.6)
  • Blood(2.6)
  • Skin(2.5)
  • Bone marrow(2.3)
  • Liver(2.3)
  • Lymph node(2.3)
  • Muscle(2.3)
  • Kidney(2.3)
  • Heart(2.2)
  • Thyroid gland(2.1)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAX Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • thyroid
  • tongue
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • adrenal gland
  • kidney
Pelvis:
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with MAX: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MAX Gene

Orthologs for MAX Gene

This gene was present in the common ancestor of animals.

Orthologs for MAX Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MAX 29 30
  • 100 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MAX 30
  • 99 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MAX 29 30
  • 98.33 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MAX 29 30
  • 98.12 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MAX 30
  • 98 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Max 29 16 30
  • 96.04 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Max 29
  • 95.83 (n)
Chicken
(Gallus gallus)
 Aves MAX 29 30
  • 84.17 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia max 29
  • 81.36 (n)
Str.4058 29
African clawed frog
(Xenopus laevis)
 Amphibia max-A 29
Zebrafish
(Danio rerio)
 Actinopterygii max 29 30
  • 79.58 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11119 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Max 30
  • 44 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea mxl-1 30
  • 35 (a)
 OneToMany
mxl-3 30
  • 23 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.2903 30
  • 57 (a)
 OneToOne
Species where no ortholog for MAX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MAX Gene

ENSEMBL:
Gene Tree for MAX (if available)
TreeFam:
Gene Tree for MAX (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAX: view image
Alliance of Genome Resources:
Additional Orthologs for MAX

Paralogs for MAX Gene

(11) SIMAP similar genes for MAX Gene using alignment to 10 proteins:

  • MAX_HUMAN
  • G3V2N4_HUMAN
  • G3V2R5_HUMAN
  • G3V302_HUMAN
  • G3V563_HUMAN
  • G3V570_HUMAN
  • G3V5L1_HUMAN
  • Q6V3B1_HUMAN
  • Q8IYC6_HUMAN
  • Q8TAX8_HUMAN

Pseudogenes.org Pseudogenes for MAX Gene

genes like me logo Genes that share paralogs with MAX: view

No data available for Paralogs for MAX Gene

Variants for MAX Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAX Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1000770 Uncertain Significance: Hereditary Paraganglioma-Pheochromocytoma Syndromes 65,076,636(-) C/T
NM_002382.5(MAX):c.323G>A (p.Ser108Asn) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON
1001961 Uncertain Significance: Hereditary Paraganglioma-Pheochromocytoma Syndromes 65,076,623(-) C/G
NM_002382.5(MAX):c.336G>C (p.Gln112His) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON
1002933 Uncertain Significance: Hereditary Paraganglioma-Pheochromocytoma Syndromes 65,093,764(-) T/C
NM_002382.5(MAX):c.115A>G (p.Ile39Val) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
1006095 Uncertain Significance: Hereditary Paraganglioma-Pheochromocytoma Syndromes 65,101,562(-) G/A
NM_002382.5(MAX):c.47C>T (p.Pro16Leu) 		MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
1008658 Uncertain Significance: Hereditary Paraganglioma-Pheochromocytoma Syndromes 65,093,740(-) G/A
NM_002382.5(MAX):c.139C>T (p.Arg47Trp) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAX Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MAX Gene

Variant ID Type Subtype PubMed ID
esv2506970 CNV deletion 19546169
esv2665422 CNV deletion 23128226
esv2673460 CNV deletion 23128226
esv2748779 CNV deletion 23290073
esv2748787 CNV deletion 23290073
esv2748788 CNV deletion 23290073
esv2748789 CNV deletion 23290073
esv3551663 CNV deletion 23714750
esv3634761 CNV loss 21293372
esv3634762 CNV loss 21293372
nsv1070225 CNV deletion 25765185
nsv1108903 CNV deletion 24896259
nsv832816 CNV gain 17160897
nsv952855 CNV deletion 24416366

Variation tolerance for MAX Gene

Residual Variation Intolerance Score: 51.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAX Gene

Human Gene Mutation Database (HGMD)
MAX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAX
Leiden Open Variation Database (LOVD)
MAX

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAX Gene

Disorders for MAX Gene

MalaCards: The human disease database

(16) MalaCards diseases for MAX Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hereditary paraganglioma-pheochromocytoma syndromes
  • hereditary paraganglioma-pheochromocytoma
pheochromocytoma
  • pheochromocytoma, susceptibility to
inherited cancer-predisposing syndrome
  • hereditary cancer-predisposing syndrome
cutaneous telangiectasia and cancer syndrome, familial
  • fctcs
tumor predisposition syndrome
  • tpds
- elite association - COSMIC cancer census association via MalaCards
Search MAX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MAX_HUMAN
  • Pheochromocytoma (PCC) [MIM:171300]: 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. {ECO:0000269 PubMed:21685915, ECO:0000269 PubMed:22452945, ECO:0000269 PubMed:26070438}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for MAX

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MAX: view

No data available for Genatlas for MAX Gene

Publications for MAX Gene

  1. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. (PMID: 22452945) Burnichon N … Robledo M (Clinical cancer research : an official journal of the American Association for Cancer Research 2012) 3 4 72
  2. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. (PMID: 21685915) Comino-Méndez I … Cascón A (Nature genetics 2011) 3 4 72
  3. Max is acetylated by p300 at several nuclear localization residues. (PMID: 17217336) Faiola F … Martinez E (The Biochemical journal 2007) 3 4 22
  4. The crystal structure of an intact human Max-DNA complex: new insights into mechanisms of transcriptional control. (PMID: 9115440) Brownlie P … Suck D (Structure (London, England : 1993) 1997) 3 4 22
  5. Max: a helix-loop-helix zipper protein that forms a sequence-specific DNA-binding complex with Myc. (PMID: 2006410) Blackwood EM … Eisenman RN (Science (New York, N.Y.) 1991) 3 4 22

ExternalLinks

View latest publications for MAX gene in Mastermind

Products for MAX Gene

  • Addgene plasmids for MAX

Sources for MAX Gene