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SARA2 / SAR1B 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.
Gene Name: | SAR1 homolog B (S. cerevisiae) |
Family/Subfamily: | Ras GTPase superfamily IPR001806 , not assigned-Ras GTPase superfamily IPR001806 |
Synonyms: | SAR1B, ANDD, CMRD, GTP-binding protein SAR1b, GTP-binding protein Sara, SARB, SAR1a gene homolog 2, SARA2, GTBPB, GTP-binding protein B, SAR1 homolog B (S. cerevisiae) |
Target Sequences: | NM_016103 NP_057187.1 Q9Y6B6 |
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