Species Human Entrez 51128 | Human Mouse Ensembl ENSG00000152700 | |
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Aliases SAR1B, ANDD, CMRD, GTBPB, SARA2, secretion associated Ras related GTPase 1B External IDs MGI: 1913647 HomoloGene: 90905 GeneCards: SAR1B | ||
SAR1 gene homolog B (S. cerevisiae), also known as SAR1B, is a protein which in humans is encoded by the SAR1B gene.
Contents
Function
SAR1B belongs to the Sar1-ADP ribosylation factor family of small GTPases, which govern the intracellular trafficking of proteins in coat protein (COP)-coated vesicles.
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.
References
SAR1B Wikipedia(Text) CC BY-SA