SAR1B

SAR1B is a gene that encodes a protein involved in the transport of lipids and proteins within cells. Mutations in this gene can lead to a rare genetic disorder known as Chylomicron retention disease (CRD).

Function

The SAR1B gene provides instructions for making a protein that is involved in the process of vesicle trafficking, a critical component of the cell's transport system. This protein is part of a group of proteins known as the COPII complex, which is responsible for the formation of vesicles that transport proteins and lipids from the endoplasmic reticulum to the Golgi apparatus.

Clinical significance

Mutations in the SAR1B gene can lead to Chylomicron retention disease (CRD), a rare genetic disorder characterized by the inability to properly absorb fat and certain vitamins from the diet. Symptoms of CRD can include failure to thrive, steatorrhea, and deficiencies in fat-soluble vitamins.

Genetics

The SAR1B gene is located on the long (q) arm of chromosome 5 at position 31.1. It spans a length of about 23.6 kilobases and consists of 8 exons. The SAR1B protein it encodes is 198 amino acids long.

See also

• COPII
• Endoplasmic reticulum
• Golgi apparatus
• Chylomicron retention disease
• Vesicle trafficking