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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
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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9. |
NCBI article
NCBI 51085
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10. |
OMIM.ORG article
Omim 605678
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Update: 14. August 2020