ACE
| is a | gene |
| is | mentioned by |
| Full name | angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 |
| EntrezGene | 1636 |
| PheGenI | 1636 |
| VariationViewer | 1636 |
| ClinVar | ACE |
| GeneCards | ACE |
| dbSNP | 1636 |
| Diseases | ACE |
| SADR | 1636 |
| HugeNav | 1636 |
| wikipedia | ACE |
| ACE | |
| gopubmed | ACE |
| EVS | ACE |
| HEFalMp | ACE |
| MyGene2 | ACE |
| 23andMe | ACE |
| UniProt | P12821 |
| Ensembl | ENSG00000159640 |
| OMIM | 106180 |
| # SNPs | 31 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs121912703 | 0 | 63,496,977 | |
| rs121912704 | 0 | 63,480,479 | |
| rs12449782 | 0 | 63,498,888 | |
| rs13447447 | 0 | 58,919,623 | |
| rs1799752 | 0 | 63,488,529 | |
| rs367797185 | 0 | 63,483,494 | |
| rs387906576 | 0 | 63,482,666 | |
| rs397514688 | 0 | 63,483,172 | |
| rs397514689 | 0 | 63,488,713 | |
| rs4291 | 0 | 63,476,833 | |
| rs4292 | 0 | 63,476,980 | |
| rs4293 | 0 | 63,478,305 | |
| rs4305 | 0 | 63,480,868 | |
| rs4309 | 0 | 63,482,562 | |
| rs4311 | 0 | 63,483,402 | |
| rs4316 | 0 | 63,484,948 | |
| rs4329 | 0 | 63,486,097 | |
| rs4332 | 0 | 63,486,920 | |
| rs4340 | 0 | 63,488,531 | |
| rs4341 | 2 | 63,488,629 | |
| rs4343 | 2 | 63,488,670 | |
| rs4344 | 0 | 63,489,363 | |
| rs4351 | 0 | 63,492,371 | |
| rs4353 | 0 | 63,493,061 | |
| rs4359 | 0 | 63,494,982 | |
| rs4362 | 0 | 63,496,400 | |
| rs4646994 | 0 | 61,565,900 | |
| rs761345398 | 0 | 63,483,173 | |
| rs771053807 | 0 | 63,483,870 | |
| rs778390161 | 0 | 63,490,953 | |
| rs779422412 | 0 | 63,478,093 |
SNPs in the ACE gene, which encodes the angiotensin I converting enzyme (peptidyl-dipeptidase A) 1, may influence numerous disparate conditions or phenotypes, including:
- Diabetic nephropathy [PMID 17376814]
- Renal disease [PMID 16791616]
- Cancer (incl. survival and tumor burden; [PMID 17898867])
- Athletic performance [PMID 17885020]
Perhaps the best studied ACE SNP is actually not a single nucleotide polymorphism at all; instead, it is an insertion/deletion of an Alu repetitive element in an intron of the ACE gene. Alleles containing the insertion are called "I" alleles, and "D" alleles lack the repetitive element. There are several dbSNP entries all tagging this single insertion/deletion SNP:
- rs4343: AA is I/I, AG is I/D, GG is D/D
- rs4341: CC is I/I, CG is I/D, GG is D/D
- rs4340
- rs1799752 - note this one is specifically named as present on 23andMe chips
- rs4646994
- rs13447447
The ACE protein is also the target of the ACE-inhibitor drugs, used to treat hypertension (high blood pressure) and congestive heart failure. Perhaps not surprisingly, therefore, ACE SNPs have been reported to influence the degree to which individuals respond to ACE-inhibitors. [PMID 17885551] SNPs reported to influence response in African Americans include:
