Zyklisches AMP-responsive Element-bindendes Protein 3-ähnliches Protein 3
Das CREB3L3-Gen kodiert einen Transkriptionsfaktor, der in die Regulation der Fettsäureoxidation eingebunden ist. Im Tierexperiment führen Mutationen in diesem Gen zu Hyperlipämie.
Gentests:
Forschung |
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. |
Omori Y et al. (2001) CREB-H: a novel mammalian transcription factor belonging to the CREB/ATF family and functioning via the box-B element with a liver-specific expression.
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3. |
Zhang K et al. (2006) Endoplasmic reticulum stress activates cleavage of CREBH to induce a systemic inflammatory response.
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4. |
Nakagawa Y et al. (2016) CREB3L3 controls fatty acid oxidation and ketogenesis in synergy with PPARα.
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5. |
NCBI article
NCBI 84699
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6. |
OMIM.ORG article
Omim 611998
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Update: 14. August 2020