Species : |
Human |
Source : |
Human Cells |
Tag : |
Flag |
Description : |
This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. |
Molecular Mass : |
191.3 kDa |
Endotoxin : |
< 0.1 ng/μg of protein (< 1 EU/μg) |
Purity : |
> 90% by SDS-PAGE gel and Coomassie Blue staining |
Applications : |
Antigens, Western, ELISA and other in vitro binding or in vivo functional assays, and protein-protein interaction studies; For research & development use only! |
Storage Buffer : |
Purified protein formulated in a sterile solution of TBS buffer, pH7.4, without any preservatives |