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- accession：NM_001131025
- 基因别名：PEX5
- 基因描述：Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 4, mRNA.
- 载体：现货载体
- CDS区长度：1920
- 翻译后氨基酸长度：639
- TranscriptVariant：This variant (4) has a different 5' UTR and lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (d), that is missing an internal segment compared to isoform a. Variants 4 and 5 encode the same isoform (d).
- 基因简介：The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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 in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in 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 neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
