Function
ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically.
Biological Context
Subcellular Location: Nucleus
Disease Association: Nicolaides-Baraitser syndrome (NCBRS) : A rare disorder characterized by severe intellectual disability with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time. [The disease is caused by variants affecting the gene represented in this entry] | Blepharophimosis-impaired intellectual development syndrome (BIS) : An autosomal dominant congenital syndrome characterized by blepharophimosis, facial dysmorphism, global development delay, delayed motor skills, impaired intellectual development with poor or absent speech, and behavioral abnormalities in some patients. Additional variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity. [The disease is caused by variants affecting the gene represented in this entry] | Schizophrenia (SCZD) : A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. [Disease susceptibility may be associated with variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Probable global transcription activator SNF2L2 (SMARCA2), partial, Biotinylated is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 700-1216aa, with N-terminal MBP-tagged and C-terminal 6xHis-Avi-tagged tag, molecular weight 107.5kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Biotinylated proteins →
