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NCBI Description of SRCAP |
| 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. Sequence Note:This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. CCDS Note: The coding region has been updated to add an additional internal exon and to extend the N-terminus to one that is more supported by available transcript and conservation data. The N-terminal extension adds a HSA domain (found in DNA binding proteins and often associated with helicases) to the DEXDc, HELICc and AT_hook domains that are also found in this protein, and this is consistent with the function of this protein as a DNA helicase. |
Community Annotation of SRCAP Add / Edit SRCAP: Annotations
No community annotations yet for SRCAP.
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Figure notes
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