Normal Function
The RAB23 gene provides instructions for making a protein that is involved in a process called vesicle trafficking, which moves proteins and other molecules within cells in sac-like structures called vesicles. A vesicle forms when the cell membrane folds around a substance outside the cell (such as a protein). The vesicle is drawn into the cell, pinched off from the cell membrane (a process called endocytosis), and attached to the Rab23 protein. Once inside the cell, the vesicle is guided by the Rab23 protein to its proper destination. Vesicle trafficking is important for the transport of materials that are needed to trigger signaling during development.
Through the transport of certain proteins, the Rab23 protein regulates a specific developmental pathway called the hedgehog signaling pathway that is critical in cell growth (proliferation), cell specialization, and the normal shaping (patterning) of many parts of the body during embryonic development.
Health Conditions Related to Genetic Changes
Carpenter syndrome
More than a dozen mutations in the RAB23 gene have been found to cause Carpenter syndrome, a condition characterized by irregular skull formation, finger and toe abnormalities, and many other features. One mutation that is frequently seen in individuals with Carpenter syndrome who are of northern European ancestry replaces the protein building block (amino acid) leucine with a premature stop signal at protein position 145 (written as Leu145Term or L145X). This mutation results in an abnormally short, unstable protein that is quickly broken down. Other RAB23 gene mutations that cause Carpenter syndrome reduce or eliminate function of the Rab23 protein. It is not clear how these mutations result in the specific features of Carpenter syndrome; however, it is likely that impaired transport of proteins involved in the hedgehog signaling pathway contributes to the development of this disorder.
More About This Health ConditionOther Names for This Gene
- HSPC137
- RAB family small GTP binding protein RAB 23
- RAB23_HUMAN
- ras-related protein Rab-23
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hebert JC, Cormier-Daire V. RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. Am J Med Genet A. 2010 Apr;152A(4):982-6. doi: 10.1002/ajmg.a.33327. Citation on PubMed
- Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO. Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. Hum Mutat. 2011 Apr;32(4):E2069-78. doi: 10.1002/humu.21457. Epub 2011 Feb 8. Citation on PubMed or Free article on PubMed Central
- Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet. 2007 Jun;80(6):1162-70. doi: 10.1086/518047. Epub 2007 Apr 18. Erratum In: Am J Hum Genet. 2007 Nov;81(5):1114. Josifiova, Dragana [corrected to Josifova, Dragana]. Citation on PubMed or Free article on PubMed Central
- Perlyn CA, Marsh JL. Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings. Plast Reconstr Surg. 2008 Mar;121(3):971-981. doi: 10.1097/01.prs.0000299284.92862.6c. Citation on PubMed
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