Entrez gene ID | | 51128 |
Official gene symbol | | SAR1B |
Full name | | SAR1 homolog B (S. cerevisiae) |
Aliases | | ,ANDD,CMRD,GTBPB,SARA2, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 5 Locus: 5q31.1 |
Gene position | | 133968533 - 133936839 Map Viewer |
Gene orientation | | minus |
Gene size | | 31695 bp |
Gene sequence |
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OMIM ID | | 607690 |
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