LP435225-0
ADAMTS2 gene targeted mutation analysis
Active
Description
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016] Source: 3M Health Information Systems ,
Basic Part Properties
- Part Name
- ADAMTS2 gene targeted mutation analysis
- Part Display Name
- ADAMTS2 gene targeted mutation analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2023-04-23
- Construct for LOINC Short Name
- ADAMTS2 Mut Anl
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP435225-0
LOINC Copyright
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