rs13234131
This is a intron variant variant in the MLXIPL gene.
▶GWAS Catalog Trait Associations (88)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (88)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
triglyceride measurement
triglycerides in small HDL measurement
triglycerides in small VLDL measurement
triglycerides in VLDL measurement
triglycerides in small LDL measurement
saturated fatty acids to total fatty acids percentage
triglycerides in very small VLDL measurement
concentration of very large VLDL particles measurement
free cholesterol to total lipids in small LDL percentage
triglycerides in HDL measurement
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…