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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001017989 Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10
NM_025136 Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $399.00 14
XM_005259278 PREDICTED: Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $299.00 14
XM_006723403 PREDICTED: Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $299.00 14

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Gene Symbol OPA3
Entrez Gene ID 80207
Full Name optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Synonyms MGA3
General protein information
Preferred Names
optic atrophy 3 protein
Names
optic atrophy 3 protein
Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus')
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 ORF Sequence $159.00
NM_025136, 260763983 NP_079412, 13376717 optic atrophy 3 protein isoform b ORF Sequence $250.00
XM_005259278, 530417294 XP_005259335, 530417295 optic atrophy 3 protein isoform X1 ORF Sequence $150.00
XM_006723403, 578834945 XP_006723466, 578834946 optic atrophy 3 protein isoform X2 ORF Sequence $150.00
Homo sapiens (human)OPA3NP_001017989.2
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_001262890.1
Xenopus (Silurana) tropicalis (western clawed frog)opa3XP_002932648.1
Process
IDNameEvidence
GO:0007601visual perceptionIMP
GO:0019216regulation of lipid metabolic processIEA
GO:0040007growthIEA
GO:0050896response to stimulusIEA
GO:0050905neuromuscular processIEA
GO:0070584mitochondrion morphogenesisIEA
Component
IDNameEvidence
GO:0005739mitochondrionIDA
GO:0005739mitochondrionNAS
GeneCards OPA3
UniProt B4DK77, Q9H6K4
Vega OTTHUMG00000182125
MIM 606580
Ensembl ENSG00000125741
HGNC 8142
HPRD 05956

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

What is the normal function of the OPA3 gene?

The OPA3 gene provides instructions for making a protein whose exact function is unknown. The OPA3 protein is found in structures called mitochondria, which are the energy-producing centers of cells. Researchers speculate that the OPA3 protein is involved in regulating the shape of mitochondria.

Interactant

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