The ACO2 gene homepage
A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
| General information |
| Gene symbol |
ACO2 |
| Gene name |
aconitase 2, mitochondrial |
| Chromosome |
22 |
| Chromosomal band |
q13.2 |
| Imprinted |
Unknown |
| Genomic reference |
NG_032143.1 |
| Transcript reference |
NM_001098.2 |
| Exon/intron information |
NM_001098.2 exon/intron table |
| Associated with diseases |
ICRD, ID, neuropathy, optic, OPA, OPA9 |
| Citation reference(s) |
Journal: Guehlouz 2021 |
| Refseq URL |
Genomic reference sequence |
| Curators (1) |
Marc Ferre |
| Total number of public variants reported |
362 |
| Unique public DNA variants reported |
157 |
| Individuals with public variants |
160 |
| Hidden variants |
2 |
| Download all this gene's data |
Download all data |
| Notes |
Pathogenic variants of the aconitase 2 gene (ACO2; MIM# 100850) are responsible for a broad clinical spectrum involving optic nerve degeneration, ranging from isolated optic neuropathy with recessive or dominant inheritance, to complex neurodegenerative syndromes with recessive transmission.
Classification of variants: please note that where there are several records of the same variant, the classification of that variant may be contradictory depending on the submitter’s conclusion. For the curator’s opinion on the classification of the variant, please view the SUMMARY record.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project. |
| Date created |
March 09, 2012 |
| Date last updated |
November 27, 2023 |
| Version |
ACO2:231127 |
Active transcripts
| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.
We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided. |
|
