免疫原
Synthesized peptide derived from human KCNC3 AA range: 303-353
特异性
This antibody detects endogenous levels of KCNC3 at Human/Mouse/Rat
来源
Polyclonal, Rabbit,IgG
组成（Formulation）
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺（Immunogen）
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景（Background）
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014],
功能
disease:Defects in KCNC3 are the cause of spinocerebellar ataxia type 13 (SCA13) [MIM:605259]. 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. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be present in some patients.,domain:The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.,domain:The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.,f
Fields
>>Spinocerebellar ataxia
细胞定位
Cell membrane ; Multi-pass membrane protein . Cell junction, synapse, presynaptic cell membrane ; Multi-pass membrane protein . Perikaryon . Cell projection, axon . Cell projection, dendrite . Cell projection, dendritic spine membrane ; Multi-pass membrane protein . Cytoplasm, cell cortex . Cytoplasm, cytoskeleton . Detected on Purkinje cell dendritic spines, positioned perisynaptically but also in extrasynaptic positions along the spine membranes (By similarity). Detected at presynaptic calices of Held (By similarity). Colocalizes with the cortical actin cytoskeleton and the Arp2/3 complex (PubMed:26997484). .
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