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Normal Function
The TRIP11 gene provides instructions for making a protein known as thyroid receptor-interacting protein 11 (TRIP-11). This protein is found in the Golgi apparatus, a cell structure in which newly produced proteins are modified so they can carry out their functions. Studies suggest that TRIP-11 helps to maintain the structure of the Golgi apparatus, and it may also be involved in the transport of certain proteins out of cells.
Although TRIP-11 is found throughout the body, researchers suspect that it may have a particularly important role in cells called chondrocytes in the developing skeleton. Chondrocytes give rise to cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.
Health Conditions Related to Genetic Changes
Achondrogenesis
Several variants (also called mutations) in the TRIP11 gene have been found to cause a form of achondrogenesis known as type 1A or the Houston-Harris type. This rare disorder of bone development is characterized by extremely short limbs, a narrow chest, short ribs that fracture easily, and a lack of normal bone formation (ossification) in the skull, spine, and pelvis. Serious health problems result from these abnormalities, and infants with achondrogenesis usually die before or soon after birth.
The TRIP11 gene variants associated with achondrogenesis type 1A often lead to the production of a nonfunctional version of TRIP-11 or prevent the cell from producing any of this protein. Studies suggest that a shortage of TRIP-11 activity alters the structure and function of the Golgi apparatus, which impairs protein modification. Chondrocytes appear to be particularly sensitive to these changes, and malfunction of the Golgi apparatus in these cells likely underlies the problems with bone formation in achondrogenesis type 1A.
More About This Health ConditionOther Names for This Gene
- ACG1A
- CEV14
- GMAP210
- ODCD
- TRIP230
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Grigelioniene G, Geiberger S, Papadogiannakis N, Makitie O, Nishimura G, Nordgren A, Conner P. The phenotype range of achondrogenesis 1A. Am J Med Genet A. 2013 Oct;161A(10):2554-8. doi: 10.1002/ajmg.a.36106. Epub 2013 Aug 16. Citation on PubMed
- Infante C, Ramos-Morales F, Fedriani C, Bornens M, Rios RM. GMAP-210, A cis-Golgi network-associated protein, is a minus end microtubule-binding protein. J Cell Biol. 1999 Apr 5;145(1):83-98. doi: 10.1083/jcb.145.1.83. Erratum In: J Cell Biol 2002 Aug 5;158(3):593. Citation on PubMed or Free article on PubMed Central
- Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafe L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21;362(3):206-16. doi: 10.1056/NEJMoa0900158. Citation on PubMed or Free article on PubMed Central
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