Aliases for SAR1B Gene
External Ids for SAR1B Gene
Previous HGNC Symbols for SAR1B Gene
Previous GeneCards Identifiers for SAR1B Gene
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, Mar 2010]
GeneCards Summary for SAR1B Gene
SAR1B (Secretion Associated Ras Related GTPase 1B) is a Protein Coding gene. Diseases associated with SAR1B include Chylomicron Retention Disease and Hypolipoproteinemia. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is SAR1A.
UniProtKB/Swiss-Prot for SAR1B Gene
Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex.