FBN1: Perbedaan antara revisi
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'''Fibrillin-1''' adalah sebuah [[protein]] manusia yang dikodekan oleh [[gen]] ''FBN1''.<ref name="pmid10036187">{{cite journal | author = Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC | title = Revised genomic organization of FBN1 and significance for regulated gene expression | journal = Genomics | volume = 56 | issue = 1 | pages = 70–7 | year = 1999 | month = May | pmid = 10036187 | pmc = | doi = 10.1006/geno.1998.5697 }}</ref><ref name="pmid12525539">{{cite journal | author = Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V | title = In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome | journal = J Med Genet | volume = 40 | issue = 1 | pages = 34–6 | year = 2003 | month = Jan | pmid = 12525539 | pmc = 1735272 | doi =10.1136/jmg.40.1.34 }}</ref>
Gen ini mengkodekan satu anggota keluarga [[fibrillin]]. Protein yang dikodekan berupa sebuah [[glikoprotein]] [[matriks ekstraseluler]] besar yang berperan sebagai komponen struktural [[mikrofibril]] pengikat kalsium 10-12 nm. Mikrofibril tersebut memperkuat struktur [[jaringan ikat]] elastis dan nonelastis di seluruh tubuh. [[Mutasi]] gen ini berkaitan dengan [[sindrom Marfan]], [[ectopia lentis]] yang terisolasi, [[sindrom Weill-Marchesani]] dominan autosomal, sindrom MASS, dan sindrom [[kraniosinostosis]] Shprintzen-Goldberg.<ref>{{cite web
== Lihat pula ==
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== Pranala luar ==
* [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=marfan GeneReviews/NCBI/NIH/UW entry on Marfan Syndrome] {{Webarchive|url=https://web.archive.org/web/20101122112008/http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=marfan |date=2010-11-22 }}
== Bacaan lanjutan ==
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