SAR1B Products

Description

SAR1B belongs to the small GTPase superfamily, SAR1 family. It is involved in transport from the endoplasmic reticulum to the Golgi apparatus and is activated by the guanine nucleotide exchange factor PREB. SAR1B is involved in the selection of the protein cargo and the assembly of the COPII coat complex. Defects in SAR1B are the cause of chylomicron retention disease (CMRD). CMRD is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The conditions are characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets.

Bioinformatics

Entrez	287276 Rat 51128 Human 66397 Mouse
Uniprot	AAH02847 Human NM_001033503 Human NM_016103 Human NP_001028675.1 Human Q9Y6B6 Human
Product By Gene ID	51128
Alternate Names	2310075M17Rik ANDD CMRD EC 3.6.5 GTP-binding protein B GTP-binding protein SAR1b GTP-binding protein Sara SAR1 homolog B (S. cerevisiae) SAR1a gene homolog (S. cerevisiae) 2 SAR1a gene homolog 2 (S. cerevisiae) SAR1a gene homolog 2 SARA2GTBPB SARB

Research Areas for SAR1B

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Signal Transduction