Chromosome 12 Open Reading Frame 65 Proteine (C12orf65)

May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion (By similarity).. Zusätzlich bieten wir Ihnen C12orf65 Antikörper (6) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
C12orf65 91574 Q9H3J6
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Top C12orf65 Proteine auf antikoerper-online.de

Showing 3 out of 3 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 26 bis 31 Tage
4.115,41 €
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HOST_HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Anmelden zum Anzeigen 6 bis 8 Tage
748,00 €
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HOST_Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 7 bis 8 Tage
345,60 €
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C12orf65 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human , ,
, ,

Weitere Proteine zu Chromosome 12 Open Reading Frame 65 (C12orf65) Interaktionspartnern

Human Chromosome 12 Open Reading Frame 65 (C12orf65) Interaktionspartner

  1. We demonstrate that the identical nonsense mutation in C12orf65 can result in different clinical features

  2. our study delineates the broad spectrum of C12orf65 defects and establishes a distinct genotype-phenotype correlation. The obligatory clinical triad is optic atrophy, peripheral neuropathy, and spastic paraparesis.

  3. The C12orf65 gene encodes a mitochondrial matrix protein that is critical for the release of newly synthesized proteins from mitochondrial ribosomes.

  4. Truncating mutations in C12ORF65 lead to a variable phenotype with intellectual disability, spastic paraplegia, and ophthalmoplegia in 2 patients.

  5. This work describes a mutation in the C12orf65 gene that causes recessive form of CMT6 and confirms the role of mitochondrial dysfunction in this complex axonal neuropathy.

  6. A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy.

  7. Knockdown of C12orf65 resulted in increased reactive oxidative species production and apoptosis, leading to inhibition of cell proliferation.

  8. C12orf65 might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation.

C12orf65 Protein Überblick

Protein Überblick

May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion (By similarity).

Genbezeichner und Symbole assoziert mit C12orf65

  • chromosome 12 open reading frame 65 (C12orf65)
  • COXPD7 Protein
  • SPG55 Protein

Bezeichner auf Proteinebene für C12orf65

probable peptide chain release factor C12orf65, mitochondrial

GENE ID SPEZIES
91574 Homo sapiens
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