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This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein.
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: 35 kDa peroxisomal membrane protein; PAF-1; peroxin 2; Peroxin-2; Peroxisomal membrane protein 3; peroxisomal membrane protein 3, 35 kDa; peroxisomal membrane protein 3, 35kDa; Peroxisome assembly factor 1; peroxisome assembly factor-1; Peroxisome biogenesis factor 2; RING finger protein 72; Zellweger syndrome homolog
基因别名: D3Ertd138e; PAF-1; PAF1; PBD5A; PBD5B; PEX2; PMP3; PMP35; PXMP3; RNF72; ZWS3
UniProt ID: (Human) Q567S6, (Mouse) P55098
Entrez Gene ID: (Human) 5828, (Mouse) 19302