2024年12月25日 · SREBF2 (Sterol Regulatory Element Binding Transcription Factor 2) is a Protein Coding gene. Diseases associated with SREBF2 include Hypercholesterolemia, Familial, 1 and Bardet-Biedl Syndrome 18. Among its related pathways are Transcriptional regulation of white adipocyte differentiation and Metabolism of steroids.

Vergnes et al. reveal how loss of Srebp2 (Srebf2) in the mouse greatly compromises expression of both Srebp1a and Srebp1c in the liver (asterisk), which are cotranscribed from the same locus (Srebf1) and differ in their 5′ exons, causing defects in both hepatic cholesterol and fatty acid synthesis. Vergnes et al. also describe how defects in ...

2025年3月4日 · Title: Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Hyperactivation of SREBP induces pannexin-1-dependent lytic cell death.

Three homozygous variants (p.L604W, p.S517F, and p.T984A) within the sterol regulatory element-binding factor 2 (SREBF2) gene are identified in one autosomal recessive family and two sporadic patients, respectively.

2022年9月12日 · Chromatin immunoprecipitation sequencing (ChIP-seq) analyses reveals that sterol regulatory element-binding proteins (SREBPs), the master regulatory TFs of lipid metabolism, are preferentially...

2023年11月29日 · Cholesterol homeostasis is under tight regulation at the transcriptional and post-transcriptional level. Sterol regulatory element-binding protein 2 (SREBP2, encoded by the SREBF2 gene)...

2016年1月21日 · Vergnes et al. reveal how loss of Srebp2 (Srebf2) in the mouse greatly compromises expression of both Srebp1a and Srebp1c in the liver (asterisk), which are cotranscribed from the same locus (Srebf1) and differ in their 5′ exons, causing defects in both hepatic cholesterol and fatty acid synthesis. Vergnes et al. also describe how defects in ...

2011年3月2日 · The sterol regulatory element-binding factor-2 (SREBF2) gene is a bifunctional locus encoding SREBP-2, a well-known transcriptional regulator of genes involved in cholesterol biosynthesis, and microRNA-33a, which has recently been shown to reduce expression of proteins involved in export of cholesterol and β-oxidation of fatty acids, thus ...

SREBF2 is a prognostic marker in Kidney renal clear cell carcinoma, Lung squamous cell carcinoma

Overexpression of sterol regulatory element-binding factor (Srebf2) in transgenic animals is linked to elevated cholesterol levels and diabetes development.