MLX-Interacting Protein-Like

Alternative Names

  • MLXIPL
  • Williams-Beuren Syndrome Chromosome Region 14
  • WBSCR14
  • Mondo Family, Member B
  • MONDOB
  • Carbohydrate Response Element-Binding Protein, Rat, Homolog of
  • CHREBP
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OMIM Number

605678

NCBI Gene ID

51085

Uniprot ID

Q9NP71

Length

31,322 bases

No. of Exons

18

No. of isoforms

6

Protein Name

Carbohydrate-responsive element-binding protein

Molecular Mass

93073 Da

Amino Acid Count

852

Genomic Location

chr7:73,593,200-73,624,521

Gene Map Locus
7q11.23

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032951.3:c.293+2673A>GLebanon; TunisiaNC_000007.14:g.73621527T>CType 2 Diabetes MellitusNG_009307.1:g.8014A>G; NM_032951.3:c.293+2673A>G7800944
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