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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MAF
MAF bZIP transcription factor
Chromosome 16 Β· 16q23.2
NCBI Gene: 4094Ensembl: ENSG00000178573.7HGNC: HGNC:6776UniProt: H3BP11
130PubMed Papers
22Diseases
0Drugs
34Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription FactorTumor Suppressor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
megakaryocyte differentiationprotein bindingidentical protein bindingsequence-specific double-stranded DNA bindingAymΓ©-Gripp syndromeearly-onset non-syndromic cataractgenetic disordercataract
✦AI Summary

MAF is a bZIP transcription factor that functions as a context-dependent regulator of gene expression across diverse biological processes. In lens development, MAF recruits coactivators CREBBP and EP300 to crystallin promoters, driving crystallin expression during fiber cell differentiation 1. MAF also regulates immune responses by co-dominantly controlling IL-10 expression in effector T cells while repressing proinflammatory cytokines; MAF-deficient mice show increased type 17 responses and susceptibility to colitis 2. In skeletal muscle, MAF maintains fast-twitch fiber identity and muscle mass by repressing atrophic genes; MAF repression during denervation or amyotrophic lateral sclerosis drives muscle atrophy, while MAF overexpression prevents this loss 3. MAF regulates epidermal differentiation as part of a dynamic gene regulatory network, acting downstream of lncRNAs and upstream of differentiation genes 4. Clinically, MAF mutations cause AymΓ©-Gripp syndrome, characterized by congenital cataracts, hearing loss, intellectual disability, and facial abnormalities 5. In cancer, MAF amplification promotes breast cancer metastasis through interactions with estrogen receptor alpha and epigenetic remodeling 6, while in multiple myeloma, the SAGA complex maintains MAF-driven oncogenic gene expression programs 78. Thus MAF functions as both a developmental regulator and context-dependent oncogene.

Sources cited
1
MAF co-dominantly regulates IL-10 expression in effector T cells and negatively regulates proinflammatory cytokines; MAF deficiency increases type 17 responses in intestinal immune cells
PMID: 38609547
2
MAF maintains fast myofiber identity and prevents muscle atrophy by repressing atrophic genes and restoring fast gene expression during denervation and ALS
PMID: 40632651
3
MAF amplification promotes breast cancer metastasis through direct interaction with estrogen receptor alpha and epigenetic remodeling via KDM1A
PMID: 37945904
4
SAGA complex ADA2B component is recruited to MAF gene targets and maintains MAF-driven oncogenic gene expression in multiple myeloma
PMID: 39168636
5
MAF and MAFB are essential transcription factors controlling epidermal differentiation gene regulatory networks, acting downstream of lncRNAs TINCR and ANCR
PMID: 27097296
6
MAF is a transcription factor gene involved in lens development and congenital cataracts
PMID: 15558493
7
Heterozygous MAF mutations cause AymΓ©-Gripp syndrome with features including congenital cataracts, sensorineural hearing loss, intellectual disability, and abnormal skull morphology
PMID: 37186330
8
SAGA cooperates with MAF and MYC to sustain oncogenic gene expression programs in multiple myeloma
PMID: 39168637
Disease Associationsβ“˜22
AymΓ©-Gripp syndromeOpen Targets
0.79Strong
early-onset non-syndromic cataractOpen Targets
0.71Strong
genetic disorderOpen Targets
0.45Moderate
cataractOpen Targets
0.44Moderate
Cataract-microcornea syndromeOpen Targets
0.40Weak
pulverulent cataractOpen Targets
0.39Weak
multiple sclerosisOpen Targets
0.39Weak
prostate carcinomaOpen Targets
0.39Weak
cataract - microcornea syndromeOpen Targets
0.38Weak
androgenetic alopeciaOpen Targets
0.38Weak
Developmental cataractOpen Targets
0.38Weak
hyperthyroidismOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
cecum adenocarcinomaOpen Targets
0.37Weak
cerulean cataractOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
Fine-Lubinsky syndromeOpen Targets
0.37Weak
hypothyroidismOpen Targets
0.37Weak
Ayme-Gripp syndromeUniProt
Cataract 21, multiple typesUniProt
Pathogenic Variants34
NM_005360.5(MAF):c.905C>T (p.Ala302Val)Pathogenic
Cataract 21 multiple types;Ayme-Gripp syndrome|Cataract 21 multiple types
β˜…β˜…β˜†β˜†2025β†’ Residue 302
NM_005360.5(MAF):c.895C>T (p.Arg299Cys)Pathogenic
Cataract 21 multiple types;Ayme-Gripp syndrome|Cataract 21 multiple types
β˜…β˜…β˜†β˜†2025β†’ Residue 299
NM_005360.5(MAF):c.916C>G (p.Arg306Gly)Pathogenic
Cataract 21 multiple types;Ayme-Gripp syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 306
NM_005360.5(MAF):c.161C>T (p.Ser54Leu)Pathogenic
Ayme-Gripp syndrome|not provided|MAF-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 54
NM_005360.5(MAF):c.170C>T (p.Ser57Phe)Likely pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 57
NM_005360.5(MAF):c.185C>T (p.Thr62Met)Likely pathogenic
Ayme-Gripp syndrome|Cataract 21 multiple types;Ayme-Gripp syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 62
NM_005360.5(MAF):c.173C>T (p.Thr58Ile)Pathogenic
Ayme-Gripp syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 58
NM_005360.5(MAF):c.878G>T (p.Arg293Met)Likely pathogenic
Ayme-Gripp syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 293
NM_005360.5(MAF):c.908A>C (p.Gln303Pro)Likely pathogenic
Cataract 21 multiple types
β˜…β˜†β˜†β˜†2025β†’ Residue 303
NM_005360.5(MAF):c.-7_701del (p.Met1_Gly234del)Pathogenic
Cataract 21 multiple types;Ayme-Gripp syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_005360.5(MAF):c.197C>T (p.Ser66Leu)Pathogenic
Ayme-Gripp syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 66
NM_005360.5(MAF):c.916C>T (p.Arg306Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 306
NM_005360.5(MAF):c.892A>T (p.Asn298Tyr)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 298
NM_005360.5(MAF):c.206del (p.Pro69fs)Likely pathogenic
Cataract 21 multiple types|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 69
NM_005360.5(MAF):c.871C>G (p.Gln291Glu)Likely pathogenic
Cataract 21 multiple types
β˜…β˜†β˜†β˜†2023β†’ Residue 291
NM_005360.5(MAF):c.185C>G (p.Thr62Arg)Pathogenic
Ayme-Gripp syndrome|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 62
NM_005360.5(MAF):c.914G>T (p.Cys305Phe)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 305
NM_005360.5(MAF):c.848AGG[2] (p.Glu285del)Likely pathogenic
MAF-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 285
NM_005360.5(MAF):c.895C>A (p.Arg299Ser)Likely pathogenic
Cataract 21 multiple types|not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 299
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs)Pathogenic
Ayme-Gripp syndrome;Cataract 21 multiple types
β˜…β˜†β˜†β˜†2019β†’ Residue 99
View on ClinVar β†—
Related Genes
TP53Protein interaction100%FOSL1Protein interaction100%BACH2Protein interaction99%NFE2Protein interaction99%MAFBProtein interaction98%NFE2L1Protein interaction97%
Tissue Expression6 tissues
Ovary
100%
Liver
61%
Lung
35%
Heart
21%
Brain
13%
Bone Marrow
13%
Gene Interaction Network
Click a node to explore
MAFTP53FOSL1BACH2NFE2MAFBNFE2L1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75444
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.03Tolerant
Observed/Expected LoF0.51 [0.32–0.85]
RankingsWhere MAF stands among ~20K protein-coding genes
  • #3,599of 20,598
    Most Researched130 Β· top quartile
  • #1,697of 5,498
    Most Pathogenic Variants34
  • #7,401of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedMAF
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Blimp-1 and c-Maf regulate immune gene networks to protect against distinct pathways of pathobiont-induced colitis.
PMID: 38609547
Nat Immunol Β· 2024
1.00
2
A mechanistic basis of fast myofiber vulnerability to neuromuscular diseases.
PMID: 40632651
Cell Rep Β· 2025
0.90
3
MAF amplification licenses ERΞ± through epigenetic remodelling to drive breast cancer metastasis.
PMID: 37945904
Nat Cell Biol Β· 2023
0.80
4
The SAGA acetyltransferase module is required for the maintenance of MAF and MYC oncogenic gene expression programs in multiple myeloma.
PMID: 39168636
Genes Dev Β· 2024
0.70
5
Epidermal differentiation gene regulatory networks controlled by MAF and MAFB.
PMID: 27097296
Cell Cycle Β· 2016
0.60