PEX11B Antibody, HRP conjugated

1. 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). PMID: 28129423
2. Self-interaction of human Pex11beta during peroxisomal growth and division regulates its membrane deforming activity in conjunction with membrane lipids. PMID: 23308220
3. Excluding mutations in all PEX 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. PMID: 22581968
4. A new study identifies the first patient with a mutation in PEX11beta.These new findings widen the spectrum of clinical and cellular phenotypes of peroxisome biogenesis disorders. PMID: 22581969
5. coordinates peroxisome membrane proliferation and maintenance PMID: 20826455
6. Fis1 plays important roles in peroxisome division and maintenance of peroxisome morphology in mammalian cells, possibly in a concerted manner with Pex11pbeta and DLP1. PMID: 17408615

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HGNC: 8853

OMIM: 603867

KEGG: hsa:8799

STRING: 9606.ENSP00000358312

UniGene: Hs.714608