FBN1

Fibrillin 1
	Rendering PDB berdasarkan 1apj.
Struktur tersedia
PDB	Ortholog search: PDBe, RCSB
Daftar kode id PDB
	1APJ, 1EMN, 1EMO, 1LMJ, 1UZJ, 1UZK, 1UZP, 1UZQ, 2W86
Tanda pengenal
Simbol	FBN1; ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1; OCTD; SGS; SSKS; WMS; WMS2
ID eksternal	OMIM: 134797 MGI: 95489 HomoloGene: 30958 GeneCards: FBN1 Gene
Gene Ontology
Fungsi molekul	• extracellular matrix structural constituent; • calcium ion binding; • protein binding;
Komponen sel	• microfibril; • extracellular region; • proteinaceous extracellular matrix; • basement membrane; • extracellular space; • extracellular matrix;
Proses biologis	• skeletal system development; • heart development; • sequestering of BMP in extracellular matrix; • sequestering of TGFbeta in extracellular matrix;
	Sumber: Amigo / QuickGO
Pola ekspresi RNA
	Data ekspresi referensi
Orthologs
	l; b; s;

Fibrillin-1 adalah sebuah protein manusia yang dikodekan oleh gen FBN1.^[1]^[2]

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.^[3]

Lihat pula

Fibrillin

Referensi

^ Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC (1999). "Revised genomic organization of FBN1 and significance for regulated gene expression". Genomics. 56 (1): 70–7. doi:10.1006/geno.1998.5697. PMID 10036187.
^ 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 (2003). "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome". J Med Genet. 40 (1): 34–6. doi:10.1136/jmg.40.1.34. PMC 1735272 . PMID 12525539.
^ "Entrez Gene: FBN1 fibrillin 1". Diarsipkan dari versi asli tanggal 2009-10-10.

Pranala luar

GeneReviews/NCBI/NIH/UW entry on Marfan Syndrome Diarsipkan 2010-11-22 di Wayback Machine.

Bacaan lanjutan

Hayward C, Brock DJ (1998). "Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies". Hum. Mutat. 10 (6): 415–23. doi:10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C. PMID 9401003.
Robinson PN, Godfrey M (2000). "The molecular genetics of Marfan syndrome and related microfibrillopathies". J. Med. Genet. 37 (1): 9–25. doi:10.1136/jmg.37.1.9. PMC 1734449 . PMID 10633129.
Handford PA (2001). "Fibrillin-1, a calcium binding protein of extracellular matrix". Biochim. Biophys. Acta. 1498 (2–3): 84–90. PMID 11108952.
Robinson PN, Booms P, Katzke S; et al. (2002). "Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies". Hum. Mutat. 20 (3): 153–61. doi:10.1002/humu.10113. PMID 12203987.
Adès LC, Holman KJ, Brett MS; et al. (2004). "Ectopia lentis phenotypes and the FBN1 gene". Am. J. Med. Genet. A. 126 (3): 284–9. doi:10.1002/ajmg.a.20605. PMID 15054843.
Milewicz DM, Dietz HC, Miller DC (2005). "Treatment of aortic disease in patients with Marfan syndrome". Circulation. 111 (11): e150–7. doi:10.1161/01.CIR.0000155243.70456.F4. PMID 15781745.
Boileau C, Jondeau G, Mizuguchi T, Matsumoto N (2005). "Molecular genetics of Marfan syndrome". Curr. Opin. Cardiol. 20 (3): 194–200. doi:10.1097/01.hco.0000162398.21972.cd. PMID 15861007.
Whiteman P, Hutchinson S, Handford PA (2006). "Fibrillin-1 misfolding and disease". Antioxid. Redox Signal. 8 (3–4): 338–46. doi:10.1089/ars.2006.8.338. PMID 16677079.