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Data suggest the importance of small Sar1b GTPase (show RACGAP1 Proteins) (Sar1b) in organs involved in lipid transport and/or calcium trafficking such as the liver, intestine, skeletal muscle and heart.
Targeted next generation DNA sequencing revealed several rare heterozygous missense variants in both MTTP (show MTTP Proteins) and APOB (show APOB Proteins) genes known or predicted to be deleterious, in addition to a novel heterozygous missense variant in SAR1B, which encodes the gene causing chylomicron retention disease
Report compensatory Sar1a (show SAR1A Proteins) elevation after Sar1b gene deletion in Caco-2/15 cells prevents chylomicron collapse.
SAR1B polymorphisms were associated with Alzheimer's disease (AD) risk; results were not significant after correction for multiple tests. Simultaneous screening using SAR1B rs11948613 and ApoE (show APOE Proteins) epsilon4 status offered a better sensitivity for AD screening.
Our data also suggest that Sar1B overexpression contributes to regulation of CHOL transport and metabolism by facilitating rapid uptake and transport of CHOL.
although Sar1A (show SAR1A Proteins) antagonizes the lipoprotein secretion-promoting activity of Sar1B, both isoforms modulate the expression of genes encoding cholesterol biosynthetic enzymes and the synthesis of cholesterol de novo.
the behavior of the human of Sar1A (show SAR1A Proteins) and Sar1B, a key component of the COPII family of vesicle coat proteins, was examined.
Sar1b expression may promote intestinal lipid transport with the involvement of the coat protein (show GOLPH3 Proteins) complex II network and the processing of SREBP-1c (show SREBF1 Proteins).
Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.
identify eight mutations in SARA2 that are associated with three severe disorders of fat malabsorption
Sara2 is an important gene in processes involving erythroid cell proliferation and differentiation.
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.
SAR1 gene homolog B
, GTP-binding protein SAR1b
, SAR1 homolog B
, hypothetical protein
, GTP-binding protein sar1b
, SAR1a gene homolog 2
, SAR1b gene homolog
, GTP-binding protein B
, GTP-binding protein Sara