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Optic Atrophy 1, Autosomal Dominant (OPA1)

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MGM1; NPG; NTG; largeG; Dynamin-Like 120 kDa Protein, Mitochondrial; Optic atrophy protein 1

Optic Atrophy 1, Autosomal Dominant (OPA1)
CCC E291
HGNC 8140
MGI 1921393
PubMed 11855928
RGD 708423
UniProt O60313
Wiki OPA1
Dynamin-like 120 kDa protein, mitochondrial 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. Eight transcript variants encoding different isoforms, resulting from alternative splicing of exon 4 and two novel exons named 4b and 5b, have been reported for this gene.OPA1 is a major organizer of the mitochondrial inner membrane and is required for the maintenance of cristae integrity.OPA1 is involved in the sequestration of cytochrome c, and that OPA1 may be a target for mitochondrial apoptotic effectors.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPE291Hu01 Recombinant Optic Atrophy 1, Autosomal Dominant (OPA1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAE291Hu01 Polyclonal Antibody to Optic Atrophy 1, Autosomal Dominant (OPA1) WB; IHC; ICC; IP.
Assay Kits SEE291Hu ELISA Kit for Optic Atrophy 1, Autosomal Dominant (OPA1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Optic Atrophy 1, Autosomal Dominant (OPA1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Optic Atrophy 1, Autosomal Dominant (OPA1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Optic Atrophy 1, Autosomal Dominant (OPA1) Polyclonal Antibody Customized Service Offer
Assay Kits SEE291Mu ELISA Kit for Optic Atrophy 1, Autosomal Dominant (OPA1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPE291Ra01 Recombinant Optic Atrophy 1, Autosomal Dominant (OPA1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAE291Ra01 Polyclonal Antibody to Optic Atrophy 1, Autosomal Dominant (OPA1) WB; IHC; ICC; IP.
Assay Kits SEE291Ra ELISA Kit for Optic Atrophy 1, Autosomal Dominant (OPA1) Enzyme-linked immunosorbent assay for Antigen Detection.
  1. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing."Nucleic Acids Res. 39:44-58(2011) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence, annotation and analysis of human chromosome 3." Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Mutation spectrum and splicing variants in the OPA1 gene."Hum. Genet. 109:584-591(2001) [PubMed] [Europe PMC] [Abstract]
  6. "Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy."Nat. Genet. 26:207-210(2000) [PubMed] [Europe PMC] [Abstract]
  7. "OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28."Nat. Genet. 26:211-215(2000) [PubMed] [Europe PMC] [Abstract]
  8. "Regulation of mitochondrial morphology through proteolytic cleavage of OPA1."EMBO J. 25:2966-2977(2006) [PubMed] [Europe PMC] [Abstract]
  9. "Inducible proteolytic inactivation of OPA1 mediated by the OMA1 protease in mammalian cells."J. Cell Biol. 187:959-966(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Vital function of PRELI and essential requirement of its LEA motif."Cell Death Dis. 1:E21-E21(2010) [PubMed] [Europe PMC] [Abstract]
  12. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  13. "ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function."J. Biol. Chem. 286:2918-2932(2011) [PubMed] [Europe PMC] [Abstract]
  14. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  15. "OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance."Hum. Mol. Genet. 10:1359-1368(2001) [PubMed] [Europe PMC] [Abstract]
  16. "Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy."Hum. Mol. Genet. 10:1369-1378(2001) [PubMed] [Europe PMC] [Abstract]
  17. "A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy."Invest. Ophthalmol. Vis. Sci. 43:1715-1724(2002) [PubMed] [Europe PMC] [Abstract]
  18. "A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy."Am. J. Ophthalmol. 135:256-257(2003) [PubMed] [Europe PMC] [Abstract]
  19. "Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy."Hum. Mutat. 21:656-656(2003) [PubMed] [Europe PMC] [Abstract]
  20. "Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1."Am. J. Ophthalmol. 138:749-755(2004) [PubMed] [Europe PMC] [Abstract]
  21. "Dominant optic atrophy: correlation between clinical and molecular genetic studies."Acta Ophthalmol. Scand. 83:337-346(2005) [PubMed] [Europe PMC] [Abstract]
  22. "OPA1 R445H mutation in optic atrophy associated with sensorineural deafness."Ann. Neurol. 58:958-963(2005) [PubMed] [Europe PMC] [Abstract]
  23. "OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy."Genet. Med. 8:217-225(2006) [PubMed] [Europe PMC] [Abstract]
  24. "Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy."Ophthalmology 113:483-488(2006) [PubMed] [Europe PMC] [Abstract]
  25. "Reversible optic neuropathy with OPA1 exon 5b mutation."Ann. Neurol. 63:667-671(2008) [PubMed] [Europe PMC] [Abstract]
  26. "Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1."Arch. Neurol. 65:125-131(2008) [PubMed] [Europe PMC] [Abstract]
  27. "Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance."Brain 131:329-337(2008) [PubMed] [Europe PMC] [Abstract]
  28. "OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes." Brain 131:338-351(2008) [PubMed] [Europe PMC] [Abstract]
  29. "A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation."J. Neurol. 255:127-129(2008) [PubMed] [Europe PMC] [Abstract]
  30. "Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations."Hum. Mutat. 30:E692-E705(2009) [PubMed] [Europe PMC] [Abstract]
  31. "Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect."Mol. Vis. 15:598-608(2009) [PubMed] [Europe PMC] [Abstract]
  32. "Novel mutations of the OPA1 gene in Chinese dominant optic atrophy."Ophthalmology 117:392-396(2010) [PubMed] [Europe PMC] [Abstract]
  33. "A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy."Biochem. Biophys. Res. Commun. 419:670-675(2012) [PubMed] [Europe PMC] [Abstract]
  34. "Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%."BMC Med. Genet. 13:65-65(2012) [PubMed] [Europe PMC] [Abstract]
  35. "Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder."Acta Ophthalmol. 91:E225-E231(2013) [PubMed] [Europe PMC] [Abstract]
  36. "Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy."Mol. Vis. 19:292-302(2013) [PubMed] [Europe PMC] [Abstract]