AFG3L2 Proteine (AFG3L2)

AFG3 ATPase Family Gene 3-Like 2 (S. Cerevisiae) Proteine (AFG3L2)
Auf finden Sie aktuell 3 AFG3 ATPase Family Gene 3-Like 2 (S. Cerevisiae) (AFG3L2) Proteine von 2 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen AFG3L2 Antikörper (63) und viele weitere Produktgruppen zu diesem Protein an. Insgesamt sind aktuell 70 AFG3L2 Produkte verfügbar.
2310036I02Rik, AW260507, Emv66, MGC147390, par, SCA28, si:ch211-12e1.4, SPAX5
alle Proteine anzeigen Gen GeneID UniProt
AFG3L2 10939 Q9Y4W6
Ratte AFG3L2 AFG3L2 307350  
AFG3L2 69597 Q8JZQ2

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Weitere Proteine zu AFG3L2 Interaktionspartnern

Human AFG3 ATPase Family Gene 3-Like 2 (S. Cerevisiae) (AFG3L2) Interaktionspartner

  1. Deletion of AFG3L2 associated with spinocerebellar ataxia (zeige USP14 Proteine) type 28 in the context of multiple genomic anomalies.

  2. AOA2 (zeige SETX Proteine) with myoclonus associated with mutations in SETX (zeige SETX Proteine) and AFG3L2

  3. This study that AFG3L2 mutations are another important cause, albeit rare, of a late-onset ataxic PEO (zeige POLG Proteine) phenotype due to a disturbance of mtDNA maintenance.

  4. StAR proteolysis is executed by at least 2 mitochondrial proteases, the matrix LON (zeige LONP1 Proteine) protease and the inner membrane complexes of the metalloproteases AFG3L2 and AFG3L2:SPG7/paraplegin (zeige SPG7 Proteine).

  5. Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia (zeige USP14 Proteine) and a positive family history.

  6. Identification of a partial AFG3L2 deletion and subsequent functional studies reveal loss of function as the most likely disease mechanism.

  7. Both full-length and truncated COX1 proteins physically interact with AFG3L2.

  8. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias.

  9. The mutations of SCA28 are associated with amino acid changes in evolutionarily conserved residues of the alleged SCA28 gene, and indicate SCA28 as the sixth recognized SCA genotype caused by point mutations.

  10. We further confirm both the involvement of AFG3L2 gene in Spinocerebellar ataxia (zeige USP14 Proteine) type 28 (SCA28) and the presence of a mutational hotspot in exons 15-16.

Mouse (Murine) AFG3 ATPase Family Gene 3-Like 2 (S. Cerevisiae) (AFG3L2) Interaktionspartner

  1. total ablation of the m-AAA protease, by deleting both Afg3l2 and its paralogue Afg3l1, triggers progressive motor dysfunction and demyelination, owing to rapid oligodendrocyte cell death

  2. AFG3L2 is critical to the surveillance mechanism that acts as a sensor to couple the synthesis of mitochondrial proteins with organelle fitness, thus ensuring coordinated assembly of the oxidative phosphorylation complexes from two sets of ribosomes.

  3. defective mitochondrial protein (zeige COX6B2 Proteine) synthesis, leading to early-onset fragmentation of the mitochondrial network, is a central causative factor in AFG3L2-related neurodegeneration.

  4. These findings shed new light in the molecular mechanisms underlining neurodegeneration caused by AFG3L2 mutations.

  5. Data show that Afg3l1 or Afg3l2 are required for maturation of newly imported paraplegin subunits after their cleavage by MPP.

  6. AFG3L2 mutant mouse models display a marked impairment of axonal development with delayed myelination and poor axonal growth.

  7. Spg7 (zeige SPG7 Proteine) and Afg3l2 double mutants show an early-onset ataxic phenotype, indicating a role of the m-AAA (zeige AAAS Proteine) proteases in cerebellar degeneration.

  8. demonstrate that cerebellum is the neuronal tissue with the highest susceptibility to reduced Afg3l2 dosage; propose that the Afg3l2 heterozygous mouse is an excellent model to unravel the pathological cascade leading to spinocerebellar ataxia (zeige USP14 Proteine) type 28

AFG3L2 Protein Überblick

Protein Überblick

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders.

Alternative names and synonyms associated with AFG3L2

  • AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2)
  • AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (afg3l2)
  • AFG3 ATPase family member 3-like 2 (S. cerevisiae) (afg3l2)
  • AFG3 ATPase family member 3-like 2 (S. cerevisiae) (AFG3L2)
  • AFG3 ATPase family member 3-like 2 (S. cerevisiae) (Afg3l2)
  • AFG3(ATPase family gene 3)-like 2 (yeast) (Afg3l2)
  • 2310036I02Rik Protein
  • AW260507 Protein
  • Emv66 Protein
  • MGC147390 Protein
  • par Protein
  • SCA28 Protein
  • si:ch211-12e1.4 Protein
  • SPAX5 Protein

Bezeichner auf Proteinebene für AFG3L2

AFG3 ATPase family gene 3-like 2 (S. cerevisiae) , AFG3 ATPase family gene 3-like 2 , AFG3 ATPase family gene 3-like 2-like , AFG3-like protein 2-like , AFG3-like protein 2 , AFG3-like protein 2 (Paraplegin-like protein) , ATPase family gene 3, yeast , paraplegin-like protein

455507 Pan troglodytes
578526 Strongylocentrotus purpuratus
703079 Macaca mulatta
780216 Xenopus (Silurana) tropicalis
100018022 Monodelphis domestica
100367333 Saccoglossus kowalevskii
100410379 Callithrix jacchus
100448741 Pongo abelii
100484304 Ailuropoda melanoleuca
569168 Danio rerio
421036 Gallus gallus
490560 Canis lupus familiaris
515757 Bos taurus
443667 Xenopus laevis
10939 Homo sapiens
307350 Rattus norvegicus
69597 Mus musculus
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