OPA1

Gene target

OPA1
Gene symbol

OPA1-AS1, OPA1, MED12
Short name

OPA1
Alternative name

optic atrophy 1 (autosomal dominant)
Alternative to gene target

optic atrophy 1 (autosomal dominant), largeG and MGM1 and NPG and NTG, OPA1 and IDBG-70072 and ENSG00000198836 and 4976, GTP binding, Plasma membranes, Opa1 and IDBG-151468 and ENSMUSG00000038084 and 74143, OPA1 and IDBG-634327 and ENSBTAG00000019514 and 524142

Identity

HGNC:8140
Gene

OPA1
Long gene name

OPA1 mitochondrial dynamin like GTPase
Synonyms gene name
- optic atrophy 1 (autosomal dominant)
- OPA1, mitochondrial dynamin like GTPase
Synonyms
- NTG
- KIAA0567
- FLJ12460
- NPG
- MGM1
Synonyms name
GenBank acession
- AB011139
Locus

3q29
Discovery year

1987-09-11
Entrez gene record

4976
Pubmed identfication
- 9490303
RefSeq identity
- NM_130837
VEGA ID

OTTHUMG00000149897
Locus Specific Databases
- Mutations of the Optic Atrophy 1 Gene
- LRG_337

Identity

HGNC:11957
Gene

MED12
Long gene name

mediator complex subunit 12
Synonyms gene
- TNRC11
- FGS1
Synonyms gene name
- trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)
- mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)
- FG syndrome 1
Synonyms
- CAGH45
- HOPA
- OPA1
- TRAP230
- KIAA0192
- OKS
- ARC240
- Kto
Synonyms name
- Kohtalo homolog
GenBank acession
- U80742
Locus

Xq13.1
Discovery year

2000-01-27
Entrez gene record

9968
Pubmed identfication
- 9225980
- 10198638
- 17334363
- 20507344
RefSeq identity
- NM_005120
Classification
- Mediator complex
VEGA ID

OTTHUMG00000021788
Locus Specific Databases
- Global Variome shared LOVD