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Center for Nephrology and Metabolic Disorders
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ADAMTS3 metalloproteinase

The ADAMTS3 gene encodes a metalloproteinase which when mutated causes autosomal recessive Hennekam lymphangiectasia-lymphedema syndrome 3.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hennekam lymphangiectasia-lymphedema syndrome 3
ADAMTS3

References:

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.

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2.

Brouillard P et al. (2017) Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

external link
3.

Tang BL et al. (1999) ADAMTS: a novel family of proteases with an ADAM protease domain and thrombospondin 1 repeats.

external link
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 external link
6.

OMIM.ORG article

Omim 605011 external link
Update: Aug. 14, 2020
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