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]

Description

MLX interacting protein like

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Peptideatlas), Transcription factors

Chromosome

7:q11.23 (73593194 - 73624543)

Ensembl ID

ENSG00000009950  (ver. 99.38)

Orthologs

Mouse Mlxipl: ENSMUSG00000005373

UniProt

Q9NP71

neXtProt

NX_Q9NP71

Human splice variants
Mouse splice variants