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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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Group enriched (Hepatocytes, Proximal enterocytes, Enteroendocrine cells, Cholangiocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (Hep G2, K-562, SCLC-21H, T-47d)

Interaction

Binds DNA as a heterodimer with TCFL4/MLX.

Molecular function

DNA-binding, Repressor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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