MAX MYC associated factor X
Gene ID: 4149, updated on 3-Apr-2024Gene type: protein coding
Also known as: PDMCS; bHLHd4
- See all available tests in GTR for this gene
- Go to complete Gene record for MAX
- Go to Variation Viewer for MAX variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies loci affecting blood copper, selenium and zinc. GeneReviews: Not available | |
| Genome-wide association study of anthropometric traits in Korcula Island, Croatia. GeneReviews: Not available | |
| Hereditary pheochromocytoma-paraganglioma MedGen: C1708353GeneReviews: Hereditary Paraganglioma-Pheochromocytoma Syndromes | See labs |
| Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Pheochromocytoma | See labs |
| Polydactyly-macrocephaly syndrome | not available |
| Seventy-five genetic loci influencing the human red blood cell. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-07-20) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-20) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 14q23.3
- Sequence:
- Chromosome: 14; NC_000014.9 (65006101..65102695, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAX variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MAX @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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