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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MLX
MAX dimerization protein MLX
Chromosome 17 · 17q21.2
NCBI Gene: 6945Ensembl: ENSG00000108788.13HGNC: HGNC:11645UniProt: Q9UH92
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II transcription regulatory region sequence-specific DNA bindingRNA polymerase II-specific DNA-binding transcription factor bindingsequence-specific double-stranded DNA bindingnegative regulation of transcription by RNA polymerase IIneurodegenerative disease46,XX gonadal dysgenesismetabolic syndrometype 2 diabetes mellitus
✦AI Summary

MLX (MAX dimerization protein MLX) is a basic-helix-loop-helix leucine zipper transcription factor that functions as a heterodimeric partner with ChR17/Mondo and other proteins, recognizing the core DNA sequence 5'-CACGTG-3' 1. As a key component of glucose-responsive gene regulation, MLX heterodimerizes with ChR17 to form a heterotetramer that binds tandem carbohydrate-responsive elements (ChoRE) containing adjacent E-boxes 2. MLX phosphorylation by casein kinase 2 and glycogen synthase kinase 3 is essential for heterotetramer stabilization and transcriptional activity 2. The ChR17-MLX complex acts as a nutrient sensor, coupling intracellular sugar and metabolite levels to coordinate carbohydrate and lipid metabolism 23. Loss of ChR17-MLX function causes sugar intolerance and metabolic dysregulation 3. In humans, MLX knockdown decreases hepatic de novo lipogenesis while increasing fatty acid oxidation and improving insulin sensitivity 4. In cancer contexts, super-enhancer-driven MLX upregulation promotes metabolic reprogramming and osteosarcoma growth by regulating the cystine transporter SLC7A11 to maintain redox balance and prevent ferroptosis 5. Additionally, genetic variants in MLX associate with altered plasma triglycerides, insulin levels, and hepatic DNL in humans 4, and MLX variants link to brain iron homeostasis with implications for neurodegenerative diseases 6.

Sources cited
1
MLX phosphorylation by CK2 and GSK3 is necessary for ChREBP-MLX heterotetramer formation on ChoRE and transcriptional activity; glucose-6-phosphate inhibits this process
PMID: 40073115
2
MLX-centered transcription networks coordinate nutrient sensing and metabolic homeostasis in response to glucose and glutamine
PMID: 24003245
3
ChREBP/Mondo-MLX are sugar-responsive transcription factors; loss leads to sugar intolerance and dysregulation of metabolism, feeding behavior, and circadian rhythm
PMID: 29278834
4
MLX knockdown in human hepatocytes decreases de novo lipogenesis, increases fatty acid oxidation, and improves insulin sensitivity; MLX SNPs associate with plasma triglycerides and hepatic DNL
PMID: 37088121
5
Super-enhancer-driven MLX in osteosarcoma regulates SLC7A11 to maintain redox balance and prevent ferroptosis; MLX upregulation predicts poor prognosis
PMID: 37460542
6
MLX genetic variants associate with brain iron homeostasis with implications for brain disorders including Parkinson's and Alzheimer's
PMID: 38956042
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
46,XX gonadal dysgenesisOpen Targets
0.42Moderate
metabolic syndromeOpen Targets
0.22Weak
type 2 diabetes mellitusOpen Targets
0.22Weak
schizophreniaOpen Targets
0.13Weak
coronary artery diseaseOpen Targets
0.12Weak
diabetes mellitusOpen Targets
0.11Weak
Eczematoid dermatitisOpen Targets
0.10Weak
azoospermiaOpen Targets
0.10Suggestive
peripheral vascular diseaseOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
spermatogenic failure 92Open Targets
0.07Suggestive
spermatogenic failure 94Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.07Suggestive
spermatogenic failure 54Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MNTProtein interaction95%OGTProtein interaction90%PPARGC1BProtein interaction90%MXD4Protein interaction90%MLXIPProtein interaction82%COASYProtein interaction81%
Tissue Expression6 tissues
Heart
100%
Lung
85%
Liver
82%
Brain
35%
Ovary
32%
Bone Marrow
24%
Gene Interaction Network
Click a node to explore
MLXMNTOGTPPARGC1BMXD4MLXIPCOASY
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UH92
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.08Tolerant
Observed/Expected LoF0.45 [0.30–0.69]
RankingsWhere MLX stands among ~20K protein-coding genes
  • #8,456of 20,598
    Most Researched53
  • #5,253of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedMLX
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The ménage à trois of autophagy, lipid droplets and liver disease.
PMID: 33794741
Autophagy · 2022
1.00
2
Spatially exploring RNA biology in archival formalin-fixed paraffin-embedded tissues.
PMID: 39353436
Cell · 2024
0.90
3
MLX phosphorylation stabilizes the ChREBP-MLX heterotetramer on tandem E-boxes to control carbohydrate and lipid metabolism.
PMID: 40073115
Sci Adv · 2025
0.80
4
Coordination of nutrient availability and utilization by MAX- and MLX-centered transcription networks.
PMID: 24003245
Cold Spring Harb Perspect Med · 2013
0.70
5
Whole-exome sequencing identifies protein-coding variants associated with brain iron in 29,828 individuals.
PMID: 38956042
Nat Commun · 2024
0.60