Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cyclic AMP-responsive element-binding protein 3-like protein 3

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.

Genetests:

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

Related Diseases:

Combined familial hyperlipidemia with adipose tissue dysfunction
C5AR2
CREB3L3
LEPR
LIPE
PNPLA2
PPARG
USF1

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.

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 [^]
6.

OMIM.ORG article

Omim 611998 [^]
Update: April 29, 2019