MLXIPL gene

MLX interacting protein like

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3'.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Williams syndrome

From UniProt:

WBSCR14 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Cytogenetic Location: 7q11.23, which is the long (q) arm of chromosome 7 at position 11.23

Molecular Location: base pairs 73,593,194 to 73,624,543 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q11.23, which is the long (q) arm of chromosome 7 at position 11.23
  • bHLHd14
  • CHREBP
  • MIO
  • MLX
  • MONDOB
  • WBSCR14
  • WS-bHLH