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SRCAP encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex.
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Data confirm a mutational hot spot in the final exon of SRCAP in the majority of Floating-Harbor syndrome patients but also show that exon 33 of this gene can be affected.
This study implicates the human SRCAP chromatin remodeling complex as a novel regulator of DNA damage responses that orchestrates proper signaling and repair of DSBs in the context of chromatin.
Functional studies and reports of patients with additional SRCAP mutations will eventually lead to a better understanding of biological mechanisms underlying this disorder.
These results indicate that perturbed skeletal maturation from infancy through adolescence is a characteristic feature in patients with SRCAP mutations.
Sequencing of the SRCAP gene demonstrated a de novo mutation matching one of the known FHS-associated mutations.
Data indicate that the absence of SRCAP mutations in 3/9 cases suggesting genetic heterogeneity of floating-harbor syndrome (FH syndrome).
Our genome-wide expression results demonstrate that SRCAP-mediated H2A.Z (show H2AFZ Antibodies) deposition at promoter regions is necessary for complete gene reactivation induced by DNA demethylation.
Sanger sequencing identified mutations in SRCAP in eight more affected persons.
HCV NS3 protein is involved in the activation of the Notch (show NOTCH1 Antibodies)-signaling pathway through the targeting to both SRCAP and p400 (show EP400 Antibodies)
These data identify SRCAP as a physiologically relevant mediator of PSA (show PLAG1 Antibodies) expression, and demonstrate that SRCAP plays a role in prostate cancer cell proliferation.
This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features.
Snf2-related CBP activator protein
, Swi2/Snf2-related ATPase homolog, domino homolog 1
, domino homolog 2
, helicase SRCAP