Search Thermo Fisher Scientific
图: 1 / 2
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Peroxin-5; Peroxisomal C-terminal targeting signal import receptor; peroxisomal targeting signal 1 (SKL type) receptor; Peroxisomal targeting signal 1 receptor; peroxisomal targeting signal import receptor; peroxisomal targeting signal receptor 1; Peroxisome receptor 1; PTS1 BP; PTS1 receptor; PTS1-BP
基因别名: PBD2A; PBD2B; PEX5; PTS1-BP; PTS1R; PXR1; RCDP5
UniProt ID: (Human) P50542
Entrez Gene ID: (Human) 5830