WebJan 3, 2024 · SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a … SWI/SNF complex subunit SMARCC2 is a protein that in humans is encoded by the SMARCC2 gene.
Expanding the Spectrum of BAF-Related Disorders: De …
WebDec 9, 2024 · The full extent of human phosphorylation is still an open question under active investigation through mass spectrometry (MS) approaches 3. Notably, an in-depth study of a single cell line... WebSMARCC2 plays a key role in how the brain and body develop. Symptoms Many people who have SMARCC2-related syndrome have: Developmental delay and intellectual disability … schede omologhe
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WebSMARCC2 (BAF170, CRACC2, Rsc8) protein expression summary. The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPas e activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the … WebSMARCC2/BAF170 Polyclonal Antibody, Bethyl Laboratories Rabbit Polyclonal Antibody $143.02 - $533.36 Specifications View More Specs Products 2 Description Specifications Description The recommended shelf life for this product is 1 year from date of receipt. WebDec 21, 2024 · Pathogenic heterozygous variants in SMARCC2 have been implicated in Coffin-Siris syndrome 8 (MIM 618362) with variable neurodevelopmental presentations. We report here two relatively severely affected patients with two different SMARCC2 variants: one has de novo pathogenic variant, c.1824_1826del, p. russell simmons living in bali