Covered on Genetics Home Reference: Williams syndromeFrom NCBI Gene: Williams syndromeFrom 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.

     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'.

The following transcription factors affect gene expression:

• Max
• PPAR-alpha
• HNF-4alpha1
• HNF-4alpha2
• c-Myc

Tissue specificity:

Expressed in liver, heart, kidney, cerebellum and intestinal tissues.

Molecular Function:

• Carbohydrate Response Element Binding
• Dna Binding
• Protein Heterodimerization Activity
• Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Dna Binding
• Transcriptional Repressor Activity, Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Binding
• Transcription Factor Activity, Sequence-Specific Dna Binding
• Transcription Factor Binding

Biological Processes:

• Anatomical Structure Morphogenesis
• Cellular Response To Carbohydrate Stimulus
• Fatty Acid Homeostasis
• Glucose Homeostasis
• Glucose Mediated Signaling Pathway
• Intracellular Signal Transduction
• Negative Regulation Of Cell Cycle Arrest
• Negative Regulation Of Oxidative Phosphorylation
• Negative Regulation Of Peptidyl-Serine Phosphorylation
• Negative Regulation Of Transcription, Dna-Templated
• Positive Regulation Of Cell Proliferation
• Positive Regulation Of Fatty Acid Biosynthetic Process
• Positive Regulation Of Glycolytic Process
• Positive Regulation Of Lipid Biosynthetic Process
• Positive Regulation Of Transcription, Dna-Templated
• Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
• Regulation Of Energy Homeostasis
• Regulation Of Transcription, Dna-Templated
• Regulation Of Transcription From Rna Polymerase Ii Promoter
• Transcription, Dna-Templated
• Triglyceride Homeostasis