cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (...
Defects in this gene are a cause of Zellweger syndrome (ZWS). 产品名称 PEX12 Knockout Lentivirus 说明书 包装 108 TU 1份 保存条件: -80ºC保存,至少一年有效. 注意事项: 碧云天拥有sgRNA序列的知识产权,如果需要sgRNA序列,请在订购后发送邮件向info@beyotime.com索取.sgRNA序列信 息与本慢病毒,...
Gene Summary This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects...
(2004) Novel mutations in the PEX12 gene of patients with peroxisome biogenesis disorder. Eur J Hum Genet;12(2):115-20. Hynes, K., Tarpey, P., Dibbens, L. M., Bayly, M. A., Berkovic, S. F., et. al. (2010) Epilepsy and mental retardation limited to females with PCDH19 ...
目录号:IPB8584 库存:现货 规格 产品信息 Catalog No :IPB8584 Reactivity:Human; Mouse; Rat Applications:WB; ELISA Dilution:WB: 1:500-2000 ELISA: 1:5000-20000 Gene Name:PEX12 PAF3 Protein Name:Peroxisome assembly protein 12 (Peroxin-12) (Peroxisome assembly factor 3) (PAF-3) ...
Founder mutationPeroxisomal disordersAt least 14 distinctive PEX genes function in the biogenesis of peroxisomes. Biallelic alterations in the peroxisomal biogenesis factor 12 (PEX12) gene lead to Zellweger syndrome spectrum (ZSS) with variable clinical expressivity ranging from early lethality to mildly ...
Ensembl Gene ID- Ensembl mRNA ID- 包装清单: 产品编号产品名称包装 QH60837SHuman PEX12P1 qPCR Primer Pair1nmol each —说明书1份 保存条件: -20℃保存。建议复溶后进行适当分装,避免反复冻融。 注意事项: PCR扩增产物的长度可能会因基因转录后存在多种剪接形式而有所差异。
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mkk3-and mkk6-regulated gene expression is mediated by the p38 mitogen-activated protein kinase signal transduction pathway. molecular and cellular biology, 1996, 16(3): 1247-1255.[4]. winski s, humphries m, yeh t, et al. activity of arry-614, an inhibitor of p38 map kinase and ...
We reported that the patient was a compound heterozygote for mutations in the gene PEX12: a 2-bp insertion (c.767_768dupAT) and a 2-bp deletion (c.887_888delTC). The first one mentioned is a novel mutation, which has not been reported before. Both mutations create a frameshift of ...