Summary of MLXIPL
The gene codes for a protein, MLX interacting protein like. Deletion of this gene results in Williams-Beuren syndrome, a multisystem developmental disorder [R].
The Function of MLXIPL
Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3'.
Protein names
Recommended name:
Carbohydrate-responsive element-binding proteinAlternative name(s):
ChREBPClass D basic helix-loop-helix protein 14
bHLHd14
MLX interactor
MLX-interacting protein-like
WS basic-helix-loop-helix leucine zipper protein
WS-bHLH
Williams-Beuren syndrome chromosomal region 14 protein
- RS12666883 (MLXIPL) ??
- RS13226650 (MLXIPL) ??
- RS13247874 (MLXIPL) ??
- RS17145750 (MLXIPL) ??
- RS3812316 (MLXIPL) ??
- RS7800944 (MLXIPL) ??
- RS9638182 (MLXIPL) ??
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Top Gene-Substance Interactions
MLXIPL Interacts with These Diseases
Disease | Score |
Substances That Increase MLXIPL
Substances | Interaction | Organism | Category |
Substances That Decrease MLXIPL
Substances | Interaction | Organism | Category |
Advanced Summary
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'.
Conditions with Increased Gene Activity
Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Expressed in liver, heart, kidney, cerebellum and intestinal tissues.
Gene Pathways:
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