Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The CREB3L3 gene encodes a transcription factor which is involvee in the regulation of fatty acid oxidation. In animal modes mutations of that gene cause hyperlipidemia.
| Research | 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 |
Combined familial hyperlipidemia with adipose tissue dysfunction
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C5AR2
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CREB3L3
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LEPR
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LIPE
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PNPLA2
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PPARG
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USF1
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| 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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