蛋白名称
Peroxisome biogenesis factor 10
免疫原
The antiserum was produced against synthesized peptide derived from human PEX10. AA range:183-232
特异性
Peroxin 10 Monoclonal Antibody detects endogenous levels of Peroxin 10 protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
PEX10; RNF69; Peroxisome biogenesis factor 10; Peroxin-10; Peroxisomal biogenesis factor 10; Peroxisome assembly protein 10; RING finger protein 69
背景
peroxisomal biogenesis factor 10(PEX10) Homo sapiens This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008],
功能
disease:Defects in PEX10 are a cause of adrenoleukodystrophy neonatal (NALD) [MIM:202370]. NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long-chain fatty acids, adrenal insufficiency and mental retardation.,disease:Defects in PEX10 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life.,disease:Defects in PEX10 are the cause of peroxisome biogenesis disorder complementation group 7 (PBD-CG7) [MIM:602859]; also known as PBD-CGB. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is com
