MLXIPL

Chr 7

MLX interacting protein like

Also known as: CHREBP, MIO, MONDOB, WBSCR14, WS-bHLH, bHLHd14

NCBI Gene: 51085 ENSG00000009950 UniProt: Q9NP71 OMIM: 605678

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.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.47

LOEUF

Mechanism· predicted