| Structural highlights
Disease
[PADI3_HUMAN] Uncombable hair syndrome. The disease is caused by mutations affecting the gene represented in this entry.
Function
[PADI3_HUMAN] Catalyzes the deimination of arginine residues of proteins.[1]
References
- ↑ U Basmanav FB, Cau L, Tafazzoli A, Mechin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmuller J, Nurnberg P, Swan D, Houniet D, Buchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am J Hum Genet. 2016 Dec 1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004. Epub, 2016 Nov 17. PMID:27866708 doi:http://dx.doi.org/10.1016/j.ajhg.2016.10.004
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