MLXIPL
MLX Interacting Protein Like; Carbohydrate-responsive element-binding protein
Gene Information Card
| Symbol | MLXIPL |
|---|---|
| Full Name | MLX interacting protein like |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 51085 ncbi.nlm.nih.gov/gene/51085 |
| Ensembl ID | ENSG00000175792 |
| UniProt ID | Q9NP71 |
| OMIM ID | 605678 |
| HGNC ID | 12744 |
| Aliases | ChREBP, MIO, WBSCR14, bHLHd14 |
Description
MLXIPL encodes a basic helix-loop-helix leucine zipper transcription factor that binds to carbohydrate response elements (ChoRE) in the promoters of target genes involved in glucose metabolism and de novo lipogenesis. It is activated by high glucose levels and plays a central role in the regulation of glycolysis, gluconeogenesis, and lipid synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertriglyceridemia, familial | Gain-of-function variants increase lipogenic gene expression leading to elevated triglycerides | ClinVar, OMIM |
| Non-alcoholic fatty liver disease (NAFLD) | Overexpression of ChREBP drives hepatic steatosis | NCBI Gene, PubMed |
| Metabolic syndrome | Altered MLXIPL activity contributes to insulin resistance and dyslipidemia | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Small intestine | 6.1 | Low |
| Pancreas | 4.2 | Low |
| Kidney | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma line |
| Huh7 | 13.8 | Hepatoma line |
| 3T3-L1 (adipocyte) | 9.5 | Differentiated adipocytes |
| MIN6 | 7.1 | Pancreatic beta-cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1210G>A (p.Gly404Ser) | Missense | 0.02% (gnomAD) | Gain-of-function; associated with hypertriglyceridemia |
| c.1462C>T (p.Arg488Trp) | Missense | <0.01% | Loss-of-function; reduced lipogenic gene expression |
| c.1990_1992del (p.Lys664del) | In-frame deletion | Rare | Dominant negative; impaired DNA binding |
Mutation functional classification
Loss of Function (LOF)
Reduced transcriptional activation of glycolytic and lipogenic target genes; may protect against steatosis.
Gain of Function (GOF)
Increased expression of lipogenic enzymes (e.g., FASN, ACLY) leading to hypertriglyceridemia and hepatic steatosis.
Dominant Negative (DN)
Mutant protein interferes with wild-type ChREBP dimerization and DNA binding, diminishing glucose-responsive transcription.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Carbohydrate-responsive element binding protein (ChREBP) signaling
• Glycolysis and gluconeogenesis
• De novo lipogenesis
• Insulin signaling
• Metabolic reprogramming in cancer
Protein Summary
The MLXIPL protein (ChREBP) is a 852-amino acid transcription factor that contains a nuclear localization signal, a basic helix-loop-helix leucine zipper (bHLH-LZ) domain, and a glucose-sensing module. Under low glucose, it is sequestered in the cytoplasm; high glucose promotes its dephosphorylation, nuclear translocation, and heterodimerization with MLX to activate target genes. ChREBP is a master regulator of glucose-responsive gene expression in liver, adipose, and pancreatic beta cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MLXIPL Knockout HEK293 Cell Line | EDJ-KQ2291 | Human | 51085 | 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 |
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