ADAMTS3-Metalloproteinase
Das ADAMTS3-Gen kodiert eine Metalloproteinase. Mutationen führen zur autosomal rezessiven Erkrankung eines Hennekam-Lymphangiectasie-Lymphödem-Syndrom 3.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Nagase T et al. (1997) Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
|
2. |
Brouillard P et al. (2017) Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
|
3. |
Tang BL et al. (1999) ADAMTS: a novel family of proteases with an ADAM protease domain and thrombospondin 1 repeats.
|
4. |
Hurskainen TL et al. (1999) ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family.
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5. |
NCBI article
NCBI 9508
|
6. |
OMIM.ORG article
Omim 605011
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Update: 14. August 2020