| Structural highlights
Disease
[GSDA3_MOUSE] Defects in Gsdma3 are the cause of a number of alopecia phenotypes, bareskin (Bsk), defolliculated (Dfl), finnegan (Fgn) reduced coat 2 (Rco2), Rex-denuded (Re-den) and recombination induced mutation 3 (Rim3). These are dominant conditions characterized by loss of hair.[1] [2] [3]
Function
[GSDA3_MOUSE] Upon activation, mediates pyroptosis (PubMed:26375003). May play a role in the transition from catagen to telogen at the end of hair follicle morphogenesis (PubMed:15475261).[4] [5]
References
- ↑ Runkel F, Marquardt A, Stoeger C, Kochmann E, Simon D, Kohnke B, Korthaus D, Wattler F, Fuchs H, Hrabe de Angelis M, Stumm G, Nehls M, Wattler S, Franz T, Augustin M. The dominant alopecia phenotypes Bareskin, Rex-denuded, and Reduced Coat 2 are caused by mutations in gasdermin 3. Genomics. 2004 Nov;84(5):824-35. PMID:15475261 doi:https://dx.doi.org/S0888-7543(04)00179-X
- ↑ Lunny DP, Weed E, Nolan PM, Marquardt A, Augustin M, Porter RM. Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland. J Invest Dermatol. 2005 Mar;124(3):615-21. PMID:15737203 doi:https://dx.doi.org/10.1111/j.0022-202X.2005.23623.x
- ↑ Tanaka S, Tamura M, Aoki A, Fujii T, Komiyama H, Sagai T, Shiroishi T. A new Gsdma3 mutation affecting anagen phase of first hair cycle. Biochem Biophys Res Commun. 2007 Aug 10;359(4):902-7. Epub 2007 Jun 8. PMID:17572385 doi:https://dx.doi.org/10.1016/j.bbrc.2007.05.209
- ↑ Runkel F, Marquardt A, Stoeger C, Kochmann E, Simon D, Kohnke B, Korthaus D, Wattler F, Fuchs H, Hrabe de Angelis M, Stumm G, Nehls M, Wattler S, Franz T, Augustin M. The dominant alopecia phenotypes Bareskin, Rex-denuded, and Reduced Coat 2 are caused by mutations in gasdermin 3. Genomics. 2004 Nov;84(5):824-35. PMID:15475261 doi:https://dx.doi.org/S0888-7543(04)00179-X
- ↑ Shi J, Zhao Y, Wang K, Shi X, Wang Y, Huang H, Zhuang Y, Cai T, Wang F, Shao F. Cleavage of GSDMD by inflammatory caspases determines pyroptotic cell death. Nature. 2015 Oct 29;526(7575):660-5. doi: 10.1038/nature15514. Epub 2015 Sep 16. PMID:26375003 doi:https://dx.doi.org/10.1038/nature15514
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