GORAB

Description

The GORAB gene,  encodes for the Golgi reassembly-stacking protein, a key component of the Golgi apparatus, a cellular organelle vital for protein modification and sorting. GORAB plays a crucial role in the assembly and maintenance of the Golgi apparatus, ensuring proper protein trafficking and secretion. Mutations in the GORAB gene can disrupt these processes, leading to a range of cellular dysfunction and associated diseases.

Associated Diseases

• Spinal Muscular Atrophy with Respiratory Distress type 1 (SMARD1)
• Congenital Disorder of Glycosylation Type Ib (CDG-Ib)

Did you know?

GORAB is highly conserved across various species, highlighting its essential role in cellular function.