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The protein encoded by PEX11B facilitates peroxisomal proliferation and interacts with PEX19.
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Next generation sequencing identified biallelic loss-of-function mutations in PEX11B as the underlying cause of disease in each case (PEX11B c.235C>T p.(Arg79Ter) homozygous; PEX11B c.136C>T p.(Arg46Ter) homozygous; PEX11B c.595C>T p.(Arg199Ter) heterozygous, PEX11B ex1-3 del heterozygous).
Self-interaction of human Pex11beta during peroxisomal growth and division regulates its membrane deforming activity in conjunction with membrane lipids.
Excluding mutations in all PEX (show PHEX Proteins) genes previously implicated in peroxisome biogenesis disorders, it was found that the defect was caused by a homozygous non-sense mutation in the PEX11beta gene.
Fis1 (show FIS1 Proteins) plays important roles in peroxisome division and maintenance of peroxisome morphology in mammalian cells, possibly in a concerted manner with Pex11pbeta and DLP1 (show DNM1L Proteins).
The alterations in the brain caused by the deletion of a single allele of the Pex11beta gene, are reported.
Light induces proliferation of peroxisomes in Arabidopsis seedlings and PEX11b plays an important role in mediating this process.
The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene.
peroxisomal biogenesis factor 11 beta
, peroxisomal biogenesis factor 11B
, peroxisomal membrane protein 11B
, protein PEX11 homolog beta
, peroxisomal biogenesis factor 11b