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Aliases for OPA1 Gene

Aliases for OPA1 Gene

  • OPA1, Mitochondrial Dynamin Like GTPase 2 3 5
  • Dynamin-Like 120 KDa Protein, Mitochondrial 2 3
  • Dynamin-Like Guanosine Triphosphatase 2 3
  • Optic Atrophy 1 (Autosomal Dominant) 2 3
  • Mitochondrial Dynamin-Like GTPase 2 3
  • Optic Atrophy Protein 1 3 4
  • EC 3.6.5.5 4
  • KIAA0567 4
  • MTDPS14 3
  • LargeG 3
  • BERHS 3
  • MGM1 3
  • NPG 3
  • NTG 3

External Ids for OPA1 Gene

Previous GeneCards Identifiers for OPA1 Gene

  • GC03P190374
  • GC03P194572
  • GC03P194713
  • GC03P194632
  • GC03P194793
  • GC03P193311
  • GC03P190698

Summaries for OPA1 Gene

Entrez Gene Summary for OPA1 Gene

  • This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for OPA1 Gene

OPA1 (OPA1, Mitochondrial Dynamin Like GTPase) is a Protein Coding gene. Diseases associated with OPA1 include Optic Atrophy 1 and Optic Atrophy Plus Syndrome. Among its related pathways are Apoptosis and Autophagy and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include GTP binding and magnesium ion binding.

UniProtKB/Swiss-Prot for OPA1 Gene

  • Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusion barrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space. May also play a role in mitochondrial genome maintenance.

  • Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation of mitochondrial fusion.

Gene Wiki entry for OPA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPA1 Gene

Genomics for OPA1 Gene

Regulatory Elements for OPA1 Gene

Enhancers for OPA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G193656 0.9 ENCODE 8.6 +64.1 64086 2.3 HDAC1 TBL1XR1 NFRKB TCF12 ELK1 SCRT2 ZNF592 POLR2H TFDP1 SMARCA4 ATP13A4 OPA1-AS1 OPA1 LOC102724808
GH03G194082 1.2 ENCODE dbSUPER 5.4 +490.1 490097 1.8 PKNOX1 TCF12 ZNF766 GATA2 ELK1 MIER2 ZNF592 MAFF SMARCA4 MYNN ENSG00000232874 HES1 OPA1 ENSG00000229964 LINC02028
GH03G193693 0.7 ENCODE 8.6 +100.7 100709 0.7 ELF3 TFAP4 FOXA2 CEBPG RARA CREM GATAD2A SOX5 HLF FOXA3 ATP13A4 GP5 OPA1 LOC102724808 RN7SL447P
GH03G193554 0.2 ENCODE 8.9 -38.2 -38217 1.3 OPA1 ATP13A4-AS1 EEF1A1P23
GH03G193970 1.6 FANTOM5 Ensembl ENCODE 1.1 +378.2 378187 1.5 ATF1 FOXA2 ARNT CREB3L1 ZNF493 ZFP64 ZNF121 ZNF766 GATA2 ZNF302 LSG1 ENSG00000232874 HES1 GP5 ENSG00000272707 ATP13A3 OPA1 ENSG00000238043 LOC105374287
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OPA1 on UCSC Golden Path with GeneCards custom track

Promoters for OPA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000163954 556 1801 CREB3L1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610

Transcription factor binding sites by QIAGEN in the OPA1 gene promoter:

Genomic Location for OPA1 Gene

Chromosome:
3
Start:
193,593,144 bp from pter
End:
193,697,823 bp from pter
Size:
104,680 bases
Orientation:
Plus strand

Genomic View for OPA1 Gene

Genes around OPA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OPA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPA1 Gene

Proteins for OPA1 Gene

  • Protein details for OPA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60313-OPA1_HUMAN
    Recommended name:
    Dynamin-like 120 kDa protein, mitochondrial
    Protein Accession:
    O60313
    Secondary Accessions:
    • D3DNW4

    Protein attributes for OPA1 Gene

    Size:
    960 amino acids
    Molecular mass:
    111631 Da
    Quaternary structure:
    • Oligomeric complex consisting of membrane-bound and soluble forms of OPA1. Interacts with CHCHD3 and IMMT; these interactions occur preferentially with soluble OPA1 forms. Binds PARL. Interacts with PRELID1.
    SequenceCaution:
    • Sequence=AF416919; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

    Alternative splice isoforms for OPA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OPA1 Gene

Post-translational modifications for OPA1 Gene

  • PARL-dependent proteolytic processing releases an antiapoptotic soluble form not required for mitochondrial fusion. Cleaved by OMA1 at position S1 following stress conditions.
  • Ubiquitination at Lys228 and Lys243
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for OPA1 (OPA1)
  • Abcam antibodies for OPA1
  • Santa Cruz Biotechnology (SCBT) Antibodies for OPA1

No data available for DME Specific Peptides for OPA1 Gene

Domains & Families for OPA1 Gene

Protein Domains for OPA1 Gene

Graphical View of Domain Structure for InterPro Entry

O60313

UniProtKB/Swiss-Prot:

OPA1_HUMAN :
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
genes like me logo Genes that share domains with OPA1: view

No data available for Gene Families for OPA1 Gene

Function for OPA1 Gene

Molecular function for OPA1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
GTP + H(2)O = GDP + phosphate.
UniProtKB/Swiss-Prot Function:
Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusion barrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space. May also play a role in mitochondrial genome maintenance.
UniProtKB/Swiss-Prot Function:
Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation of mitochondrial fusion.

Enzyme Numbers (IUBMB) for OPA1 Gene

Gene Ontology (GO) - Molecular Function for OPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding NAS 11017080
GO:0003924 GTPase activity IEA,TAS 11017080
GO:0005515 protein binding IPI 20436456
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with OPA1: view
genes like me logo Genes that share phenotypes with OPA1: view

Human Phenotype Ontology for OPA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OPA1 Gene

MGI Knock Outs for OPA1:

Animal Model Products

CRISPR Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for OPA1 Gene

Localization for OPA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPA1 Gene

Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion intermembrane space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OPA1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for OPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA,IDA 17545159
GO:0005741 mitochondrial outer membrane IDA 12504110
GO:0005743 mitochondrial inner membrane TAS --
GO:0005758 mitochondrial intermembrane space ISS 11847212
genes like me logo Genes that share ontologies with OPA1: view

Pathways & Interactions for OPA1 Gene

genes like me logo Genes that share pathways with OPA1: view

Pathways by source for OPA1 Gene

2 Cell Signaling Technology pathways for OPA1 Gene
3 Reactome pathways for OPA1 Gene

Gene Ontology (GO) - Biological Process for OPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000002 mitochondrial genome maintenance IMP 18158317
GO:0000266 mitochondrial fission TAS 12509422
GO:0003374 dynamin family protein polymerization involved in mitochondrial fission IBA --
GO:0006915 apoptotic process IEA --
GO:0007005 mitochondrion organization IEA,NAS 11017080
genes like me logo Genes that share ontologies with OPA1: view

No data available for SIGNOR curated interactions for OPA1 Gene

Drugs & Compounds for OPA1 Gene

(5) Drugs for OPA1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with OPA1: view

Transcripts for OPA1 Gene

Unigene Clusters for OPA1 Gene

Optic atrophy 1 (autosomal dominant):
Representative Sequences:

CRISPR Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for OPA1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^
SP1: - - -
SP2: -
SP3:
SP4: - - -
SP5:
SP6:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for OPA1 Gene

GeneLoc Exon Structure for
OPA1
ECgene alternative splicing isoforms for
OPA1

Expression for OPA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OPA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OPA1 Gene

This gene is overexpressed in Nasal epithelium (12.0) and Bone (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for OPA1 Gene



Protein tissue co-expression partners for OPA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OPA1 Gene:

OPA1

SOURCE GeneReport for Unigene cluster for OPA1 Gene:

Hs.594504

mRNA Expression by UniProt/SwissProt for OPA1 Gene:

O60313-OPA1_HUMAN
Tissue specificity: Highly expressed in retina. Also expressed in brain, testis, heart and skeletal muscle. Isoform 1 expressed in retina, skeletal muscle, heart, lung, ovary, colon, thyroid gland, leukocytes and fetal brain. Isoform 2 expressed in colon, liver, kidney, thyroid gland and leukocytes. Low levels of all isoforms expressed in a variety of tissues.

Evidence on tissue expression from TISSUES for OPA1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Heart(2.5)
  • Muscle(2.4)
  • Blood(2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OPA1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with OPA1: view

Primer Products

No data available for mRNA differential expression in normal tissues for OPA1 Gene

Orthologs for OPA1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for OPA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OPA1 34 35
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 99 (a)
OneToMany
LOC477129 34
  • 92.61 (n)
-- 35
  • 90 (a)
OneToMany
cow
(Bos Taurus)
Mammalia OPA1 34 35
  • 93.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 92 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia OPA1 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Opa1 34 16 35
  • 88.65 (n)
rat
(Rattus norvegicus)
Mammalia Opa1 34
  • 87.99 (n)
chicken
(Gallus gallus)
Aves OPA1 34 35
  • 78.52 (n)
lizard
(Anolis carolinensis)
Reptilia OPA1 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia opa1 34
  • 77.18 (n)
zebrafish
(Danio rerio)
Actinopterygii opa1 34 35 35
  • 71.83 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2951 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011286 34
  • 56.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta opa1-like 34 35
  • 55.2 (n)
CG8479 36
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea D2013.5 36
  • 56 (a)
eat-3 34 35
  • 55.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MGM1 35
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 60 (a)
OneToOne
Species where no ortholog for OPA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OPA1 Gene

ENSEMBL:
Gene Tree for OPA1 (if available)
TreeFam:
Gene Tree for OPA1 (if available)

Paralogs for OPA1 Gene

genes like me logo Genes that share paralogs with OPA1: view

No data available for Paralogs for OPA1 Gene

Variants for OPA1 Gene

Sequence variations from dbSNP and Humsavar for OPA1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121908375 Pathogenic, Optic atrophy 1 (OPA1) [MIM:165500] 193,637,280(+) GCCAC(A/G)GGTAT nc-transcript-variant, reference, missense
rs121908376 Pathogenic, Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] 193,648,109(+) TAACT(A/G)TCCTC intron-variant, nc-transcript-variant, reference, missense
rs140606054 Uncertain significance, Optic atrophy 1 (OPA1) [MIM:165500] 193,648,076(+) AACAC(A/G)TTTTA intron-variant, nc-transcript-variant, reference, missense
rs143319805 Pathogenic, Behr syndrome (BEHRS) [MIM:210000], Optic atrophy 1 (OPA1) [MIM:165500] 193,643,378(+) ACCAT(A/G)TCCTT nc-transcript-variant, reference, missense
rs145710079 Optic atrophy 1 (OPA1) [MIM:165500] 193,667,256(+) GTAAA(C/T)GCGTT intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for OPA1 Gene

Variant ID Type Subtype PubMed ID
esv2449864 CNV insertion 19546169
esv2759212 CNV gain 17122850
esv3373845 CNV insertion 20981092
esv3569205 CNV loss 25503493
nsv10376 CNV loss 18304495

Variation tolerance for OPA1 Gene

Residual Variation Intolerance Score: 10.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.80; 95.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OPA1 Gene

Human Gene Mutation Database (HGMD)
OPA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OPA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPA1 Gene

Disorders for OPA1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for OPA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
optic atrophy 1
  • optic atrophy type 1
optic atrophy plus syndrome
  • optic atrophy
behr syndrome
  • optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
mitochondrial dna depletion syndrome 14, cardioencephalomyopathic type
  • mitochondrial dna depletion syndrome 14
autosomal dominant optic atrophy plus syndrome
  • dominant optic atrophy plus syndrome
- elite association - COSMIC cancer census association via MalaCards
Search OPA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OPA1_HUMAN
  • Behr syndrome (BEHRS) [MIM:210000]: An autosomal recessive syndrome characterized by optic atrophy beginning in early childhood associated with ataxia, pyramidal signs, spasticity, mental retardation, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade. {ECO:0000269 PubMed:21636302, ECO:0000269 PubMed:25012220, ECO:0000269 PubMed:25146916}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]: A neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes. {ECO:0000269 PubMed:15531309, ECO:0000269 PubMed:16240368, ECO:0000269 PubMed:18065439, ECO:0000269 PubMed:18158317, ECO:0000269 PubMed:18195150, ECO:0000269 PubMed:21112924, ECO:0000269 PubMed:23387428}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14) [MIM:616896]: An autosomal recessive mitochondrial disorder characterized by lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. Skeletal muscle biopsies show significant mtDNA depletion and abnormal mitochondria. {ECO:0000269 PubMed:26561570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Optic atrophy 1 (OPA1) [MIM:165500]: 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. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density. {ECO:0000269 PubMed:11017079, ECO:0000269 PubMed:11017080, ECO:0000269 PubMed:11440988, ECO:0000269 PubMed:11440989, ECO:0000269 PubMed:11810270, ECO:0000269 PubMed:12036970, ECO:0000269 PubMed:12566046, ECO:0000269 PubMed:14961560, ECO:0000269 PubMed:15948788, ECO:0000269 PubMed:16513463, ECO:0000269 PubMed:16617242, ECO:0000269 PubMed:18204809, ECO:0000269 PubMed:18360822, ECO:0000269 PubMed:19319978, ECO:0000269 PubMed:19325939, ECO:0000269 PubMed:19969356, ECO:0000269 PubMed:22382025, ECO:0000269 PubMed:22857269, ECO:0000269 PubMed:23401657}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for OPA1

Genetic Association Database (GAD)
OPA1
Human Genome Epidemiology (HuGE) Navigator
OPA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OPA1
genes like me logo Genes that share disorders with OPA1: view

No data available for Genatlas for OPA1 Gene

Publications for OPA1 Gene

  1. OPA1 increases the risk of normal but not high tension glaucoma. (PMID: 19581274) Yu-Wai-Man P. … Chinnery P.F. (J. Med. Genet. 2010) 3 22 46 64
  2. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. (PMID: 19319978) Ferre M. … Amati-Bonneau P. (Hum. Mutat. 2009) 3 4 46 64
  3. Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. (PMID: 19325939) Nochez Y. … Reynier P. (Mol. Vis. 2009) 3 4 22 64
  4. OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background. (PMID: 19619285) Pierron D. … Letellier T. (BMC Med. Genet. 2009) 3 22 46 64
  5. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. (PMID: 19754948) Wolf C. … Weisschuh N. (BMC Med. Genet. 2009) 3 22 46 64

Products for OPA1 Gene

Sources for OPA1 Gene

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