ACE gene homepage

General information
Gene symbol ACE
Gene name angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
Chromosome 17
Chromosomal band q23.3
Imprinted Unknown
Genomic reference NG_011648.1
Transcript reference NM_000789.3
Exon/intron information NM_000789.3 exon/intron table
Associated with diseases AD, ICH, MVCD-3, RTD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Olivier Gribouval
Total number of public variants reported 100
Unique public DNA variants reported 69
Individuals with public variants 32
Hidden variants 12
Date created April 29, 2010
Date last updated November 17, 2016
Version ACE:161117

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000789.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/ACE
External URL Orphanet
HGNC 2707
Entrez Gene 1636
PubMed articles ACE
OMIM - Gene 106180
OMIM - Diseases AD (Alzheimer disease (AD))
ICH (hemorrhage, intracerebral, susceptibility to (ICH))
MVCD-3 (microvascular complications of diabetes, susceptibility, type 3 (MVCD-3))
RTD (dysgenesis, renal tubular (RTD))
HGMD ACE
GeneCards ACE
GeneTests ACE


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001958 17 transcript variant 1 NM_000789.3 NP_000780.1 100


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