rs13240065
This is a regulatory region variant variant in the MLXIPL gene.
▶GWAS Catalog Trait Associations (40)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (40)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
polyunsaturated fatty acids to monounsaturated fatty acids ratio
triglyceride measurement, phospholipid level
triglycerides in large VLDL measurement
total lipids in large VLDL
free cholesterol in large VLDL measurement
total cholesterol in large VLDL
triglycerides in very large VLDL measurement
total lipids in very large VLDL measurement
free cholesterol:total lipids ratio, intermediate density lipoprotein measurement
low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio
About MLXIPL
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]
View all MLXIPL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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