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TRAPPC2

TRAPPC2

Reviewed June 2008

What is the official name of the TRAPPC2 gene?

The official name of this gene is “trafficking protein particle complex 2.”

TRAPPC2 is the gene's official symbol. The TRAPPC2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the TRAPPC2 gene?

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.

How are changes in the TRAPPC2 gene related to health conditions?

X-linked spondyloepiphyseal dysplasia tarda - caused by mutations in the TRAPPC2 gene

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.

Where is the TRAPPC2 gene located?

Cytogenetic Location: Xp22

Molecular Location on the X chromosome: base pairs 13,712,241 to 13,734,634

The TRAPPC2 gene is located on the short (p) arm of the X chromosome at position 22.

The TRAPPC2 gene is located on the short (p) arm of the X chromosome at position 22.

More precisely, the TRAPPC2 gene is located from base pair 13,712,241 to base pair 13,734,634 on the X chromosome.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about TRAPPC2?

You and your healthcare professional may find the following resources about TRAPPC2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TRAPPC2 gene or gene products?

  • MBP-1 interacting protein-2A
  • MIP-2A
  • SEDL
  • sedlin
  • SEDT
  • TPPC2_HUMAN
  • TRS20
  • ZNF547L

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding TRAPPC2?

cell ; DNA ; dysplasia ; endoplasmic reticulum ; expressed ; gene ; Golgi apparatus ; molecule ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: June 2008
Published: September 15, 2014