Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kohlenhydrat-responsive element-Bindungsprotein

Das MLXIPL-Gen kodiert einen Transkriptionsfaktor, der in die Regulation des Kohlenhydratstoffwechsels eingreift und damit auch eine gewisse Bedeutung für den Lipidstoffwechsel besitzen kann.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Gestörte Regulatoren des Lipid- und Kohlenhydratstoffwechsels
GCKR
GPD1
MLXIPL
TRIB1

Referenzen:

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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