MLXIPL
Chr 7MLX interacting protein like
Also known as: CHREBP, MIO, MONDOB, WBSCR14, WS-bHLH, bHLHd14
This gene encodes a glucose-responsive transcription factor that regulates fatty acid synthesis and glycolysis, serving as a key determinant of systemic insulin sensitivity and glucose homeostasis. MLXIPL is deleted in Williams-Beuren syndrome, a multisystem developmental disorder with autosomal dominant inheritance caused by contiguous gene deletions at chromosome 7q11.23. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.47), suggesting some intolerance to complete loss of function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MLXIPL · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools