SAR1B

SAR1B

A gene on chromosome 5q31.1 that encodes a protein involved in transport from the endoplasmic reticulum to the Golgi apparatus. SAR1B is activated by the guanine nucleotide exchange factor PREB, and it is involved in selecting protein cargoes and assembling COPII coat complexes.

Molecular pathology
Defects in SAR1B cause chylomicron retention disease.
References in periodicals archive ?
ABL and CMRD are very rare recessive disorders caused by mutations in the MTTP [6] (microsomal triglyceride transfer protein) and SAR1B [SAR1 homolog B (S.