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ADAMTS2

Template:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/row
Identifiers
SymbolsADAMTS2 ; ADAM-TS2; ADAMTS-2; ADAMTS-3; NPI; PC I-NP; PCI-NP; PCINP; PCPNI; PNPI
External IDsOMIM604539 MGI1347356 HomoloGene8597 IUPHAR: 1675 GeneCards: ADAMTS2 Gene
EC number3.4.24.14
Orthologs
SpeciesHumanMouse
Entrez9509216725
EnsemblENSG00000087116ENSMUSG00000036545
UniProtO95450Q8C9W3
RefSeq (mRNA)NM_014244NM_001277305
RefSeq (protein)NP_055059NP_001264234
Location (UCSC)Chr 5:
178.54 – 178.77 Mb
Chr 11:
50.6 – 50.81 Mb
PubMed search[1][2]

A disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAM-TS2) also known as procollagen I N-proteinase (PC I-NP) is an enzyme[1] that in humans is encoded by the ADAMTS2 gene.[2][3]

Gene

The ADAMTS2 gene is located on the long (q) arm of chromosome 5 at the end (terminus) of the arm, from base pair 178,473,473 to base pair 178,704,934.

Function

ADAMTS2 is responsible for processing several types of procollagen proteins. Procollagens are the precursors of collagens, the proteins that add strength and support to many body tissues. Specifically, this enzyme clips a short chain of amino acids off one end of the procollagen. This clipping step is necessary for collagen molecules to function normally and assemble into fibrils outside cells.

Clinical significance

Ehlers-Danlos syndrome, dermatosparaxis type is caused by mutations in the ADAMTS2 gene.[3] Several mutations in the ADAMTS2 gene have been identified in people with this syndrome. These mutations greatly reduce the production of the enzyme made by the ADAMTS2 gene. Procollagen cannot be processed correctly without this enzyme. As a result, collagen fibrils are not assembled properly; they appear ribbon-like and disorganized under the microscope. Cross-links, or chemical interactions, between collagen fibrils are also affected. These defects weaken connective tissue (the tissue that binds and supports the body's muscles, ligaments, organs, and skin), which causes the signs and symptoms of the disorder.

See also

References

  1. ^ Tang BL, Hong W (February 1999). "ADAMTS: a novel family of proteases with an ADAM protease domain and thrombospondin 1 repeats". FEBS Lett. 445 (2–3): 223–5. PMID 10094461. doi:10.1016/S0014-5793(99)00119-2. 
  2. ^ "Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif". 
  3. ^ a b Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Adès LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapière CM, Nusgens BV (October 2004). "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. 123 (4): 656–63. PMID 15373769. doi:10.1111/j.0022-202X.2004.23406.x. 

Further reading

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External links