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Immunogen sequence: KAQHHSPLLR LAGVQLGRLT VQDIQALEHK PAKASMMQQP ARSVSEKINS AL
Highest antigen sequence identity to the following orthologs: Mouse - 65%, Rat - 69%.
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.
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: PAF-3; peroxin 12; Peroxin-12; Peroxisome assembly factor 3; Peroxisome assembly protein 12
基因别名: PAF-3; PAF3; PBD3A; PEX12
UniProt ID: (Human) O00623
Entrez Gene ID: (Human) 5193