GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:20011602
| Citation |
Nesterovitch, AB, Hogarth, KD, Adarichev, VA, Vinokour, EI, Schwartz, DE, Solway, J and Danilov, SM (2009) Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE. PLoS ONE 4:e8282 |
|---|---|
| Abstract |
Angiotensin-converting enzyme (ACE) metabolizes many peptides and plays a key role in blood pressure regulation and vascular remodeling. Elevated ACE levels may be associated with an increased risk for different cardiovascular or respiratory diseases, including asthma. Previously, a molecular mechanism underlying a 5-fold familial increase of blood ACE was discovered: Pro1199Leu substitution enhanced the cleavage-secretion process. Carriers of this mutation were Caucasians from Europe (mostly Dutch) or had European roots. |
| Links |
PubMed PMC2788243 Online version:10.1371/journal.pone.0008282 |
| Keywords |
Amino Acid Substitution/genetics; Animals; Base Sequence; Blotting, Western; CHO Cells; Cluster Analysis; Cricetinae; Cricetulus; DNA Mutational Analysis; Ethnic Groups/genetics; Female; Gene Dosage/genetics; Haplotypes/genetics; Humans; Male; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutant Proteins/chemistry; Mutation/genetics; Pedigree; Peptidyl-Dipeptidase A/blood; Peptidyl-Dipeptidase A/chemistry; Peptidyl-Dipeptidase A/genetics; Protein Conformation; Recombinant Proteins/genetics; Transfection |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
|
enables |
GO:0070573: metallodipeptidase activity |
ECO:0000269: experimental evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
Notes
See also
References
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