TRAPPC2

trafficking protein particle complex 2

The TRAPPC2 gene provides instructions for producing the protein sedlin, which is active (expressed) in cells throughout the body. The function of sedlin is unclear. Researchers believe that sedlin is part of a large molecule called the trafficking protein particle (TRAPP) complex, which plays a role in the transport of proteins between various cell compartments (organelles). It is thought that sedlin is located between two organelles, the endoplasmic reticulum and the Golgi apparatus. The endoplasmic reticulum is involved in protein processing and transport, and the Golgi apparatus modifies newly produced proteins. How sedlin participates in the movement of proteins between these two organelles is unknown.

At least 40 mutations in the TRAPPC2 gene have been found to cause X-linked spondyloepiphyseal dysplasia tarda. Most of these mutations delete one or more DNA building blocks (nucleotides) in the TRAPPC2 gene. All of the mutations result in a nonfunctional sedlin protein. Because sedlin is expressed throughout the body, it is unclear why mutations in the TRAPPC2 gene affect only bone growth.

Cytogenetic Location: Xp22, which is the short (p) arm of the X chromosome at position 22

Molecular Location: base pairs 13,712,242 to 13,734,635 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp22, which is the short (p) arm of the X chromosome at position 22
  • MBP-1 interacting protein-2A
  • MIP-2A
  • SEDL
  • sedlin
  • SEDT
  • TPPC2_HUMAN
  • TRS20
  • ZNF547L