ADAMTS19

Gene Information
 
Gene Symbol
ADAMTS19
 
Aliases
-
 
Entrez Gene ID
 
Gene Name
ADAM metallopeptidase with thrombospondin type 1 motif 19
 
Chromosomal Location
5q23.3
 
HGNC ID
 
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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 protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008]
  e!Ensembl
Gene
Transcript  
Protein
Protein Information
 
Protein Name
A disintegrin and metalloproteinase with thrombospondin motifs 19, a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19
 
Function
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF05986 ADAM_spacer1
PF01562 Pep_M12B_propep
PF01421 Reprolysin
PF00090 TSP_1
Pathways
 
Reactome
 

 

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Heart Diseases
Endocrine System Diseases
PCOS
Reproductive disorders
Ovarian Failure
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
ADAMTS-16, FSH, ADAMTS-1, TSHB,  
PCOS 
 
 Rotterdam criteria 
Indirect 
86 patients: 21 consecutive women were diagnosed with POF (group1), 21 consecutive women were diagnosed with natural menopause (group 2), 22 consecutive women were diagnosed with PCOS (group 3), and 22 women were recruited as a fertile control group (group 4 
 ADAMTS-19 was found to be higher in PCOS patients than in POF patients. This work provides a novel vantage point for function of ECM within the ovary. ADAMTS-19 may have a potential for being an important marker of ovarian function and oocyte pool. 
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