MLX Gene
MAX Dimerization Protein MLX: A Key Regulator of Glucose and Lipid Metabolism
Gene Information Card
| Symbol | MLX |
|---|---|
| Full Name | MAX dimerization protein MLX |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.1 |
| NCBI Gene ID | 6945 ncbi.nlm.nih.gov/gene/6945 |
| Ensembl ID | ENSG00000108788 |
| UniProt ID | Q9UH92 |
| OMIM ID | 602976 |
| HGNC ID | 7110 |
| Aliases | TCF15, bHLHd13, Mlx |
Description
The MLX gene encodes a basic helix-loop-helix leucine zipper (bHLH-ZIP) transcription factor that forms heterodimers with MondoA (MLXIP) and ChREBP (MLXIPL). These complexes regulate the expression of genes involved in glucose and lipid metabolism, including glycolysis, lipogenesis, and gluconeogenesis. MLX is ubiquitously expressed and plays a critical role in nutrient sensing and metabolic homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic syndrome | Dysregulation of MLX heterodimers (MondoA and ChREBP) leads to altered glucose and lipid metabolism, contributing to insulin resistance and obesity. | PMID: 23438753 |
| Non-alcoholic fatty liver disease (NAFLD) | ChREBP-MLX activation promotes de novo lipogenesis, driving hepatic steatosis. | PMID: 29029399 |
| Type 2 diabetes | Impaired MLX-mediated glucose sensing affects insulin secretion and peripheral insulin sensitivity. | PMID: 25615935 |
| Cancer (various) | MLX heterodimers regulate metabolic reprogramming (Warburg effect) in tumor cells; overexpression linked to poor prognosis in some cancers. | PMID: 27864367 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Pancreas | 10.1 | Medium |
| Skeletal muscle | 7.8 | Low |
| Brain | 6.4 | Low |
| Kidney | 9.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.3 | High expression; relevant for metabolic studies |
| HeLa (cervical) | 8.7 | Moderate expression |
| K562 (leukemia) | 6.1 | Low expression |
| A549 (lung) | 9.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown significance; located in bHLH domain |
| c.400G>A (p.Glu134Lys) | Missense | <0.01% | Unknown significance; may affect dimerization |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants in the bHLH domain (e.g., p.Pro67Leu) may impair DNA binding or dimerization, reducing transcriptional activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MLX.
Dominant Negative (DN)
Mutations that disrupt dimerization without affecting DNA binding could act as dominant negatives, but no specific examples validated.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Carbohydrate-responsive element binding protein (ChREBP) pathway
• MondoA pathway
• Glycolysis and gluconeogenesis regulation
• De novo lipogenesis
Protein Summary
MLX is a 244-amino acid protein (UniProt Q9UH92) containing a bHLH-ZIP domain that mediates dimerization with MondoA or ChREBP. The heterodimers bind to E-box sequences (CACGTG) in the promoters of target genes. MLX lacks a nuclear export signal, so its localization depends on its partners. It is essential for coordinating metabolic responses to glucose and lipid availability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MLXIPL Knockout HEK293 Cell Line | EDJ-KQ2291 | Human | 51085 | Details Get a Quote |
| MLX Knockout HEK293 Cell Line | EDJ-KQ5904 | Human | 6945 | Details Get a Quote |
| MLXIP Knockout HEK293 Cell Line | EDJ-KQ7711 | Human | 22877 | Details Get a Quote |
| MLXIP Knockout A-549 Cell Line | EDJ-KQ33106 | Human | 22877 | Details Get a Quote |
| MLXIP Knockout HeLa Cell Line | EDJ-KQ33108 | Human | 22877 | Details Get a Quote |
| MLXIPL Knockout A-549 Cell Line | EDJ-KQ22647 | Human | 51085 | Details Get a Quote |
| MLXIPL Knockout HCT 116 Cell Line | EDJ-KQ22648 | Human | 51085 | Details Get a Quote |
| MLXIPL Knockout HeLa Cell Line | EDJ-KQ22649 | Human | 51085 | Details Get a Quote |
| MLX Knockout HCT 116 Cell Line | EDJ-KQ29423 | Human | 6945 | Details Get a Quote |
| MLX Knockout HeLa Cell Line | EDJ-KQ29424 | Human | 6945 | Details Get a Quote |
| MLXIP Knockout HCT 116 Cell Line | EDJ-KQ31780 | Human | 22877 | Details Get a Quote |
| MLX Knockout A-549 Cell Line | EDJ-KQ63109 | Human | 6945 | Details Get a Quote |
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