免疫原
The antiserum was produced against synthesized peptide derived from human PLEKHG4. AA range:654-703
特异性
Puratrophin 1 Polyclonal Antibody detects endogenous levels of Puratrophin 1 protein.
来源
Polyclonal, Rabbit,IgG
组成(Formulation)
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
稀释比例
WB: 1/500 - 1/2000. IHC: 1/100 - 1/300. ELISA: 1/20000.. IF 1:50-200
纯化工艺(Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
背景(Background)
The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015],
功能
disease:Defects in PLEKHG4 are the cause of spinocerebellar ataxia 16q22-linked (SCA16q22) [MIM:117210]; alo known as pure spinocerebellar ataxia Japanese type or SCA4 pure Japanese type. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA16q22 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs.,function:Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.,similarity:Contains 1 DH (DBL-homology) domain.,similarity:Contains 1 PH domain.,tissue specificity:Expressed in kidney, Leydig cells in the testis, epit
其他名称
PLEKHG4; PRTPHN1; Puratrophin-1; Pleckstrin homology domain-containing family G member 4; PH domain-containing family G member 4; Purkinje cell atrophy-associated protein 1
组织表达
Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and Langerhans islet in the pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower extent in other neurons (at protein level). Widely expressed at low levels. More strongly expressed in testis and pancreas.