TRAPPC9

Description

TRAPPC9, or Translocation Protein Particle Complex 9 Subunit, is a gene that encodes a protein essential for the proper functioning of the TRAPP complex. This complex plays a vital role in the vesicular transport of proteins from the endoplasmic reticulum (ER) to the Golgi apparatus, a crucial step in the protein maturation process. TRAPPC9 specifically contributes to the formation of the TRAPPII subcomplex, which is critical for the transport of cargo proteins from the ER to the Golgi. Mutations in the TRAPPC9 gene can disrupt this process, leading to a range of cellular and physiological problems.

Associated Diseases

• Congenital Disorder of Glycosylation type Ib (CDG-Ib)
• Spinal Muscular Atrophy (SMA)
• Neurodevelopmental Disorders
• Intellectual Disability
• Cerebellar Ataxia
• Epilepsy

Did you know?

TRAPPC9 is a relatively recently discovered gene, with its function in protein transport being elucidated in the early 2000s.