SAR1B
From Infogalactic: the planetary knowledge core
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SAR1 gene homolog B (S. cerevisiae), also known as SAR1B, is a protein which in humans is encoded by the SAR1B gene.[1][2]
Function
SAR1B belongs to the Sar1-ADP ribosylation factor family of small GTPases,[3] which govern the intracellular trafficking of proteins in coat protein (COP)-coated vesicles.[4]
Clinical significance
Mutations in the SAR1B gene are associated with chylomicron retention disease (also known as Anderson disease) which is an autosomal recessive disorder of severe fat malabsorption.[5]
References
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Further reading
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