OPA3
entrez
80207
canonical
uniprot
Q9H6K4
canonical
ensembl
ENSG00000125741
resolver
ensp
ENSP00000263275
resolver
ensp
ENSP00000319817
resolver
ensp
ENSP00000442839
resolver
enst
ENST00000544371
resolver
genesymbol
OPA3
resolver
hgnc
HGNC:8142
resolver
uniprot
B4DK77
resolver
uniprot
F6XRF9
resolver
uniprot
Q6P384
resolver
uniprot
Q8N784
resolver
uniprot_entry
B4DK77_HUMAN
resolver
uniprot_entry
F6XRF9_HUMAN
resolver
uniprot_entry
OPA3_HUMAN
resolver
uniprot_sec
Q6P384
resolver
uniprot_sec
Q8N784
resolver
amino_acid_sequence
MVVGAFPMAKLLYLGIRQVSKPLANRIKEAARRSEFFKTYICLPPAQLYHWVEMRTKMRIMGFRGTVIKPLNEEAAAELGAELLGEATIFIVGGGCLVLEYWRHQAQQRHKEEEQRAAWNALRDEVGHLALALEALQAQVQAAPPQGALEELRTELQEVRAQLCNPGRSASHAVPASKK
uniprot
proteins
disease_involvement
DISEASE: 3-methylglutaconic aciduria 3 (MGCA3) [MIM:258501]: An autosomal recessive metabolic disorder that causes a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGCA3 can be distinguished from MGCA1 by the absence of increase of 3-hydroxyisovaleric acid levels. {ECO:0000269|PubMed:11668429}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Optic atrophy 3 (OPA3) [MIM:165300]: A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia. {ECO:0000269|PubMed:15342707}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play some role in mitochondrial processes.
uniprot
proteins
mass_dalton
19996
uniprot
proteins
protein_family
OPA3 family
uniprot
proteins
pubmed
11668429
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15342707
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31696227
uniprot
proteins
sequence_length
179
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
uniprot
proteins