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OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_001017989 Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. ORF Sequence $159.00
Peptide Services
Antibody Services
Protein Services
NM_025136 Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. ORF Sequence $159.00
Peptide Services
Antibody Services
Protein Services


Gene Symbol OPA3
Entrez Gene ID 80207
Full Name optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Synonyms FLJ22187, FLJ25932, MGA3, MGC75494
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19q13.32

Summary The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009].
Disorder

MIM: 606580

3-methylglutaconic aciduria, type III, 258501 (3); Optic atrophy

mRNA Protein Product Sequence Price Select
NM_001017989, 156151426 NP_001017989, 156151427 optic atrophy 3 protein isoform a Full Length $568.98
ORF Sequence $159.00
NM_025136, 260763983 NP_079412, 13376717 optic atrophy 3 protein isoform b Full Length $3550.05
ORF Sequence $159.00
Homo sapiens (human)OPA3NP_001017989.2
Macaca mulatta (Rhesus monkey)LOC716068XP_001106601.1
Canis lupus familiaris (dog)OPA3XP_855096.1
Bos taurus (cattle)OPA3NP_001232863.1
Mus musculus (house mouse)Opa3NP_997408.2
Danio rerio (zebrafish)opa3NP_001073635.1
Drosophila melanogaster (fruit fly)CG13601NP_651192.1
GeneCards OPA3
UniProt Q9H6K4
MIM 606580
Ensembl ENSG00000125741
HGNC 8142
HPRD 05956

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
optic atrophy 3 protein
Names
optic atrophy 3 protein
Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus')

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