MAX
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MAX (HGNC:6913) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
MYC associated factor X
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8
%HI
2.06(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.29(Read more about gnomAD LOEUF score)
Cytoband
14q23.3
Genomic Coordinates
GRCh37/hg19: chr14:65472819-65569413 NCBI Ensembl UCSC
GRCh38/hg38: chr14:65006101-65102695 NCBI Ensembl UCSC
MANE Select Transcript
NM_002382.5 ENST00000358664.9 (Read more about MANE Select)
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. {ECO:0000269|PubMed:26070438}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15826
ClinGen Curation ID:
CCID:007439
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
07/20/2021

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • PHEOCHROMOCYTOMA/PARAGANGLIOMA Monarch
HI Evidence:
  • PUBMED: 21685915
    Comeno-Mendez et al., (2011) studied 62 cases with pheochromocytoma (PCC) and found 8 pathogenic variants in MAX. They found 3 mutations from 3 independent familial cases with altered initiation codon (c.1A>G), introduced stop codon (c.223C>T) and one causing exon 4 skipping (c.295_1G>A). Immunohistochemical (IHC) analysis showed lack of full length MAX protein. SNP array and multiplex PCR microsatellite confirmed Uniparental disomy (UPD). only silenced paternal allele was found in 2 cases without familial antecedents, suggesting loss of maternal allele accounted for the LOH in all 3 cases. In a cohort of 59 cases, 2 additional truncating mutations affecting exon 3 (c.97C>T) and 4 (c.185_186delA)were identified and confirmed by IHC analysis. Chr.14q LOH was caused by either chromosomal loss or UPD with paternal transmission. PCC was absent in 2 cases who inherited the mutation from their mother and in 2 obligate carriers of a different family.
  • PUBMED: 22452945
    Burnichon et al., (2012) found 16 pathogenic variants in MAX affecting 23 subjects with pheochromocytoma. 18 novel variants and 2 previously reported truncating mutations (c.97C>T and c.223C>T) were identified. Mutations affecting initial methionine (c.2T>A), causing a stop codon (c.25del, c.97C>T, c.223C>T and c.244C>T) and 2 deletions, one causing in-frame loss of six highly conserved amino acids (c.140_157del) and one spanning the whole gene (C.1-?_483+?del) were also identified. Paternal mode of transmission was also confirmed.
  • PUBMED: 33815275
    Duarte et al., (2021) studied a family of 4 with 3 children having the same deleterious variant (c.97C>T) in MAX as that of their father.
  • PUBMED: 28384794
    Bausch et al., (2017) found 8 unrelated individuals with pathogenic variants (c.73C>T, c.146C>G, c.223C>T in 3 cases, c.242-243del, c.292dup and c.307G>T) in MAX.
HI Evidence Comments:
Paternally inherited LOF variants convey an increased risk to Pheochromocytooma/Paraganglioma.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence of triplosensitivity

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)