MT-ATP6 gene homepage
MSeqDR-LSDB: Mitochondrial Disease LSDB
| General information |
| Gene symbol |
MT-ATP6 |
| Gene name |
mitochondrially encoded ATP synthase 6 |
| Chromosome |
M |
| Chromosomal band |
M |
| Imprinted |
|
| Genomic reference |
NC_012920.1 |
| Transcript reference |
(ATP6_v001), MT-ATP6-201 |
| Associated with diseases |
500003, 500006, 500010, 500015, LHON, MLASA3, MTATP6, , NARP SYNDROME |
| Citation reference(s) |
- |
| Curators (0) |
- |
| Total number of public variants reported |
66 |
| Unique public DNA variants reported |
66 |
| Individuals with public variants |
0 |
| Hidden variants |
0 |
| Download all this gene's data |
Download all data |
| Notes |
MSeqDR-LSDB |
| Date created |
November 12, 2013 |
| Date last updated |
July 03, 2018 |
| Version |
MT-ATP6:180703 |
| Links to other resources |
| HGNC |
7414 |
| Entrez Gene |
4508 |
| PubMed articles |
MT-ATP6 |
| OMIM - Gene |
516060 |
| OMIM - Diseases |
500003 (STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL )
500006 (500006 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC)
500010 (500010 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET)
500015 (Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1)
LHON (LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY)
MLASA3 (500011 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3)
MTATP6 (ATP SYNTHASE 6)
NARP SYNDROME (NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA) |
| HGMD |
MT-ATP6 |
| GeneCards |
MT-ATP6 |
| GeneTests |
MT-ATP6 |
Active transcripts
| Copyright & disclaimer |
| Mitochondria chromosome located genes from HGNC |
Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium
|
