Name = ADAM metallopeptidase with thrombospondin type 1 motif, 2
caption =

width =
HGNCid = 218
Symbol = ADAMTS2
AltSymbols =
EntrezGene = 9509
OMIM = 604539
RefSeq = NM_014244
UniProt = O95450
ECnumber =
Chromosome = 5
Arm = q
Band = 23
LocusSupplementaryData = -q24

ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif, 2) is a gene that produces an enzyme that 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 (Amino acids are the building blocks of proteins). This clipping step is necessary for collagen molecules to function normally and assemble into fibrils outside cells.

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.

Related conditions

Ehlers-Danlos syndrome, dermatosparaxis type is caused by mutations in the ADAMTS2 gene. 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.

ee also



* PMID 10417273
* PMID 11167130
* PMID 12646579

External links

* [ GeneCard]

Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать реферат

Look at other dictionaries:

  • ADAMTS — (A Disintegrin And Metalloproteinase with Thrombospondin Motifs) is a family of peptidases. 19 members of this family have been identified in humans. Known functions of the ADAMTS proteases include processing of procollagens and von Willebrand… …   Wikipedia

  • Síndrome de Ehlers-Danlos — Individuo con articulaciones hipermóviles. Ver otra imagen en el texto Clasificación y recursos externos CIE 10 …   Wikipedia Español

  • 5-я хромосома человека — Идиограмма 5 й хромосомы человека 5 я хромосома человека  одна из 23 человеческих хромосом. Хромосома содержит около 181 млн пар оснований[1], ч …   Википедия

  • Ehlers–Danlos syndrome — Classification and external resources The collagen fibril and EDS. (a) Normal collagen fibrils are of uniform size and spacing. Fibrils from a patient with dermatosparaxis (b) show dramatic alterations in fibril morphology with severe effects on… …   Wikipedia

  • Collagen — Tropocollagen triple helix Collagen /ˈkɒlədʒɨn/ is a group of naturally occurring proteins found in animals, especially in the flesh and connective tissues of mammals.[1] It is the main component of connectiv …   Wikipedia

  • Keratin — Not to be confused with kerogen, carotene, chitin, or creatine. Microscopy of keratin filaments inside cells. Keratin refers to a family of fibrous structural proteins. Keratin is the key structural material making up the outer layer of human… …   Wikipedia

  • Ehlers-Danlos syndrome — Infobox Disease | Name = Ehlers Danlos syndrome | ICD10 = ICD10|Q|79|6|q|65 | ICD9 = ICD9|756.83 | OMIM = | MedlinePlus = 001468 eMedicineSubj = derm eMedicineTopic = 696 eMedicine mult = eMedicine2|ped|654 | MeshID = D004535 Ehlers Danlos… …   Wikipedia

  • Extracellular matrix — Illustration depicting extracellular matrix (basement membrane and interstitial matrix) in relation to epithelium, endothelium and connective tissue Latin …   Wikipedia

  • Matrix metalloproteinase — Cell surface associated MT1 MMP (MMP14), Green fluorescent protein (GFP) fused to the C term produces a signal on the surface of the cell[1] Matrix metalloproteinases (MMPs) are zinc dependent endopeptidases; other family members are adamalysins …   Wikipedia

  • Cytokeratin — Keratin intermediate filaments in epithelial cells (red stain). Cytokeratins are proteins of keratin containing intermediate filaments found in the intracytoplasmic cytoskeleton of epithelial tissue. The term cytokeratin began to be used in the… …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”