1. Gene
  2. MLXIPL - MLX interacting protein like Gene

MLXIPL - MLX interacting protein like Gene

Homo sapiens

Also known as MIO; MLX; CHREBP; MONDOB; WBSCR14; WS-bHLH; bHLHd14

Gene ID: 51085 | Gene type: protein coding

About MLXIPL

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,593,202-73,647,907 (from NCBI)

This gene has 11 transcripts (splice variants), 197 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in fat (RPKM 35.0), liver (RPKM 27.7) and 8 other tissues.

Summary

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]

MLXIPL Products(4)

mRNA Protein Name
NM_032951.3 NP_116569.1 carbohydrate-responsive element-binding protein isoform alpha
NM_032952.3 NP_116570.1 carbohydrate-responsive element-binding protein isoform beta
NM_032953.3 NP_116571.1 carbohydrate-responsive element-binding protein isoform gamma
NM_032954.3 NP_116572.1 carbohydrate-responsive element-binding protein isoform delta

MLXIPL Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (650 - 704)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 852 a.a.
Protein Preferred Names Protein Names

carbohydrate-responsive element-binding protein

Mlx interactor

Related Diseases

Diseases Alias
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Non-Alcoholic Fatty Liver Disease

Fatty Liver

Non-Alcoholic Fatty Liver

Nafld

Nonalcoholic Fatty Liver Disease

Nonalcoholic Steatohepatitis

Steatosis

Nafl

Nash

Non-Alcoholic Steatohepatitis

Susceptibility To Nonalcoholic Fatty Liver Disease

Steatohepatitis

Fatty Degeneration

Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

Nafld Without Nash

Nafld Without Mention Of Nash

Hepatocellular Adenoma

Adenoma Hepatocellular

Fructosuria, Essential

Essential Fructosuria

Ketohexokinase Deficiency

Fructosuria

Hepatic Fructokinase Deficiency

Fructokinase Deficiency

FRUCT

Deficiency Of Fructokinase

Fatty Liver Disease

Alcoholic Fatty Liver

Fatty Liver

Fatty Liver, Alcoholic

Fatty Change Of Liver

Hepatic Lipidosis

Steatosis Of Liver

Fatty Liver Alcoholic

Steatohepatitis

Etoh Fatty Liver

Etoh Fatty Liver Metamorphosis

Fatty Etoh Liver Necrosis

Non-Alcoholic Steatohepatitis

Nonalcoholic Steatohepatitis

Nash

Nash - [Non-Alcoholic Steatohepatitis]

Non-Alcoholic Steatohepatosis

Lipid Storage Disease

Lipoidosis

Inborn Lipid Storage Disorder

Lipoid Storage Diseas

Lipid Storage Diseases

Lipidoses

Glycogen Storage Disease Ia

Von Gierke Disease

Glycogen Storage Disease Type I

Glycogen Storage Disease I

Hepatorenal Form Of Glycogen Storage Disease

Hepatorenal Glycogenosis

Glucose-6-Phosphatase Deficiency

Glycogen Storage Disease, Type I

Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia

GSD1A

Gsd1

Von Gierke'S Disease

Glycogen Storage Disease Type 1a

Glycogen Storage Disease 1a

Glucose-6-Phosphate Transport Defect

Gsd Ia

Deficiency Of Glucose-6-Phosphatase

Glycogenosis Type I

Glucose-6-Phosphatase Deficiency Glycogen Storage Disease

Glycogenosis Type 1

Glucose-6-Phosphate Deficiency

Gsd I

Gsd Type I

G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type Ia

Gsd Type 1a

Gsdia

Glycogen Storage Disease Due To G6p Deficiency Type Ia

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia

Glycogenosis Type Ia

Gsd-Ia

Storage Disease, Glycogen, Type 1a

Glycogen Storage Disease Type Ia

Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MLXIPL RGD RGD:620400
Felis catus MLXIPL VGNC VGNC:63530
Canis familiaris MLXIPL VGNC VGNC:43269
Macaca mulatta MLXIPL VGNC VGNC:81722
Mus musculus MLXIPL MGD MGI:1927999
Bos taurus MLXIPL VGNC VGNC:31510