Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Carbohydrate-responsive element-binding protein

The MLXIPL gene encodes a transcription factor which is involved in regulation of carbohydrate metabolism. It may be as well involved in lipid metaboism.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Disturbed regulators of lipid and carbohydrate metabolism
GCKR
GPD1
MLXIPL
TRIB1

References:

1.

Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

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2.

Meng X et al. (1998) Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes.

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3.

de Luis O et al. (2000) WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog.

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4.

Cairo S et al. (2001) WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network.

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5.

Kawaguchi T et al. (2001) Glucose and cAMP regulate the L-type pyruvate kinase gene by phosphorylation/dephosphorylation of the carbohydrate response element binding protein.

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6.

Kawaguchi T et al. (2002) Mechanism for fatty acid "sparing" effect on glucose-induced transcription: regulation of carbohydrate-responsive element-binding protein by AMP-activated protein kinase.

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7.

Merla G et al. (2004) The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.

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8.

Herman MA et al. (2012) A novel ChREBP isoform in adipose tissue regulates systemic glucose metabolism.

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9.

NCBI article

NCBI 51085 external link
10.

OMIM.ORG article

Omim 605678 external link
11.

Wikipedia article

Wikipedia EN (Carbohydrate-responsive_element-binding_protein) external link
Update: Aug. 14, 2020
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