基因名称(Gene Name)
FBXO8 FBS FBX8 DC10 UNQ1877/PRO4320
蛋白名称
F-box only protein 8 (F-box/SEC7 protein FBS)
免疫原
Synthesized peptide derived from human FBX8 AA range: 186-236
特异性
This antibody detects endogenous levels of human FBX8
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 serum by affinity-chromatography using specific immunogen.
背景
The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encod
功能
disease:Defects in SCARB2 are the cause of action myoclonus-renal failure syndrome (AMRF) [MIM:254900]; also known as myoclonus-nephropathy syndrome. AMRF is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles. Cognitive function is preserved.,function:May act as a lysosomal receptor.,mass spectrometry: PubMed:11840567,similarity:Belongs to the CD36 family.,
