MLXIP
Homo sapiens
Gene Name: MLX interacting protein
Aliases: MIR, MONDOA, bHLHe36
Chromosome No: 12
Chromosome Band: 12q24.31
Genetic Category: Functional-Rare single gene variant
Aliases: MIR, MONDOA, bHLHe36
Chromosome No: 12
Chromosome Band: 12q24.31
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 6
Evidence score: 3
ASD Reports: 5
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 6
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
TADA analysis of an integrated cohort of over 40,000 ASD cases across unpublished and published global cohort in Tan et al., 2026 identified MLXIP as an ASD risk gene with a false discovery rare of <0.05; among the ASD-associated variants used in this analysis were two de novo loss-of-function variant in ASD probands originally reported in Fu et al., 2022 and a de novo missense variant identified in an unpublished SPARK proband.
Molecular Function
This gene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the regulation of genes in response to cellular glucose levels.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.
ASD
Support
The Function of MondoA and ChREBP Nutrient-Sensing Factors in Metabolic Disease.
Support
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
ASD
Support
Partitioning of MLX-Family Transcription Factors to Lipid Droplets Regulates Metabolic Gene Expression.
