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SAR1 homolog B

SARA2, Sar1b
The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: apolipoprotein B, Sar1, ACID, PCSK9, CAN
Papers on SARA2
Update on the molecular biology of dyslipidemias.
Ramasamy, Worcester, United Kingdom. In Clin Chim Acta, Dec 2015
Abetalipoproteinemia and chylomicron retention disease are due to mutations in the microsomal transfer protein and Sar1b-GTPase genes, which affect the secretion of apoB containing lipoproteins.
Milk Polar Lipids Affect In Vitro Digestive Lipolysis and Postprandial Lipid Metabolism in Mice.
Michalski et al., Villeurbanne, France. In J Nutr, Aug 2015
This was associated at 4 h with a lower gene expression of apolipoprotein B (Apob) and Secretion Associated, Ras related GTPase 1 gene homolog B (Sar1b), in the duodenum of MPL mice compared with SPL mice (P < 0.05).
Insights from human congenital disorders of intestinal lipid metabolism.
Levy, Montréal, Canada. In J Lipid Res, May 2015
Deciphering inherited disorders of intracellular CM elaboration afforded new insight into the key functions of crucial intracellular proteins, such as Apo B, microsomal TG transfer protein, and Sar1b GTPase, the defects of which lead to hypobetalipoproteinemia, abetalipoproteinemia, and CM retention disease, respectively.
Animal model of Sar1b deficiency presents lipid absorption deficits similar to Anderson disease.
Knapik et al., Nashville, United States. In J Mol Med (berl), Feb 2015
Anderson disease (ANDD) or chylomicron retention disease (CMRD) is a rare, hereditary lipid malabsorption syndrome associated with mutations in the SAR1B gene that is characterized by failure to thrive and hypocholesterolemia.
Sar1b transgenic male mice are more susceptible to high-fat diet-induced obesity, insulin insensitivity and intestinal chylomicron overproduction.
Sane et al., Lyon, France. In J Nutr Biochem, 2014
In the intracellular secretory network, nascent proteins are shuttled from the endoplasmic reticulum to the Golgi by transport vesicles requiring Sar1b, a small GTPase.
Tissue distribution and regulation of the small Sar1b GTPase in mice.
Levy et al., Montréal, Canada. In Cell Physiol Biochem, 2013
BACKGROUND/AIMS: Sar1b GTPase (Sar1b) represents an obligatory component of COPII vesicles that bud from the endoplasmic reticulum to transport proteins to the Golgi apparatus.
The FYVE domain of Smad Anchor for Receptor Activation (SARA) is required to prevent skin carcinogenesis, but not in mouse development.
Yan et al., Taipei, Taiwan. In Plos One, 2013
In this study, we describe the expression of two SARA isoforms, SARA1 and SARA2, in mice and report the generation and characterization of SARA mutant mice with FYVE domain deletion.
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
Tarugi et al., Reggio nell'Emilia, Italy. In Gene, 2013
Monogenic hypobetalipoproteinemias include three disorders: abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) with recessive transmission and familial hypobetalipoproteinemia (FHBL) with dominant transmission.
Phosphorylation of Sar1b protein releases liver fatty acid-binding protein from multiprotein complex in intestinal cytosol enabling it to bind to endoplasmic reticulum (ER) and bud the pre-chylomicron transport vesicle.
Mansbach et al., Memphis, United States. In J Biol Chem, 2012
Proteins co-eluted from the column were identified as FABP1, Sar1b, Sec13, and small VCP/p97-interactive protein by immunoblot, LC-MS/MS, and MALDI-TOF.
Expression of Sar1b enhances chylomicron assembly and key components of the coat protein complex II system driving vesicle budding.
Sane et al., Montréal, Canada. In Arterioscler Thromb Vasc Biol, 2011
Sar1b expression may promote intestinal lipid transport with the involvement of the coat protein complex II network and the processing of SREBP-1c.
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
Shoulders et al., Reggio nell'Emilia, Italy. In J Lipid Res, 2011
We particularly focus on the biological aspects of those gene mutations and variants that impact on sterol absorption and hepatobiliary excretion via specific membrane transporter systems (NPC1L1, ABCG5/8); the incorporation of dietary sterols (MTP) and of de novo synthesized lipids (HMGCR, TRIB1) into apoB-containing lipoproteins (APOB) and their release into the circulation (ANGPTL3, SARA2, SORT1); and receptor-mediated uptake of LDL and of intestinal and hepatic-derived lipoprotein remnants (LDLR, APOB, APOE, LDLRAP1, PCSK9, IDOL).
Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.
Averna et al., Reggio nell'Emilia, Italy. In Adv Clin Chem, 2010
The rare recessive forms of primary monogenic HBL are represented by abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) due to mutations in MTP and SARA2 genes, respectively.
Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.
Averna et al., Palermo, Italy. In Metabolism, 2010
Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.
Department of Pediatrics et al., Montréal, Canada. In Orphanet J Rare Dis, 2009
Genotyping identifies the Sar1b gene mutation.Treatment should be aimed at preventing potential complications.
Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.
Samson-Bouma et al., Gif-sur-Yvette, France. In Clin Genet, 2008
muscular as well as cardiac abnormalities that could be related to the reported expression of SARA2 in these tissues
Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.
Lachaux et al., Bron, France. In Mol Genet Metab, 2008
Five mutations in the SAR1B gene causing Anderson disease.
Expression of Sara2 human gene in erythroid progenitors.
Costa et al., Campinas, Brazil. In J Biochem Mol Biol, 2005
Sara2 is an important gene in processes involving erythroid cell proliferation and differentiation.
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
Shoulders et al., London, United Kingdom. In Nat Genet, 2003
identify eight mutations in SARA2 that are associated with three severe disorders of fat malabsorption
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