ADAM metallopeptidase with thrombospondin type 1 motif 2
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El ADAMTS2 gene provides instructions for making an enzyme that processes several types of procollagen molecules. Procollagens are the precursors of collagens, which are complex molecules found in the spaces between cells that add strength, support, and stretchiness (elasticity) to many body tissues. The ADAMTS2 enzyme cuts a short chain of protein building blocks (amino acids) off one end of procollagens. This clipping step is necessary for the resulting collagen molecules to assemble into strong, slender fibrils.
Normal function
El ADAMTS2 gene provides instructions for making an enzyme that processes several types of procollagen molecules. Procollagens are the precursors of collagens, which are complex molecules found in the spaces between cells that add strength, support, and stretchiness (elasticity) to many body tissues. The ADAMTS2 enzyme cuts a short chain of protein building blocks (amino acids) off one end of procollagens. This clipping step is necessary for the resulting collagen molecules to assemble into strong, slender fibrils.
Conditions referring to this gene or chromosome
Otros nombres
a disintegrin and metalloproteinase with thrombospondin motifs 2
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAM-TS2
ATS2_HUMAN
hPCPNI
NPI
PCINP
PCPNI
pNPI
procollagen I N-proteinase
procollagen I/II amino-propeptide processing enzyme
procollagen N-endopeptidase
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Lecturas adicionales y referencias
- ADAM metallopeptidase with thrombospondin type 1 motif 2; MedlinePlus, National Library of Medicine.
- Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Ades LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapiere CM, Nusgens BV. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. J Invest Dermatol. 2004 Oct;123(4):656-63. doi: 10.1111/j.0022-202X.2004.23406.x.
- Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapiere CM, Prockop DJ, Nusgens BV. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet. 1999 Aug;65(2):308-17. doi: 10.1086/302504.
- Kelwick R, Desanlis I, Wheeler GN, Edwards DR. The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family. Genome Biol. 2015 May 30;16(1):113. doi: 10.1186/s13059-015-0676-3.
- Le Goff C, Cormier-Daire V. The ADAMTS(L) family and human genetic disorders. Hum Mol Genet. 2011 Oct 15;20(R2):R163-7. doi: 10.1093/hmg/ddr361. Epub 2011 Aug 31.
- Wang WM, Lee S, Steiglitz BM, Scott IC, Lebares CC, Allen ML, Brenner MC, Takahara K, Greenspan DS. Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase. J Biol Chem. 2003 May 23;278(21):19549-57. doi: 10.1074/jbc.M300767200. Epub 2003 Mar 19.
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