SRCAP
Function
Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch-mediated transcription.
Involvement in disease
Floating-Harbor syndrome
FLHS
A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips.
None
The disease is caused by variants affecting the gene represented in this entry.
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
DEHMBA
An autosomal dominant disorder characterized by developmental delay, speech delay, mild to severe intellectual disability, hypotonia, musculoskeletal features, and behavioral abnormalities including autistic features. Skeletal anomalies include joint hypermobility, chronic musculoskeletal pain, scoliosis, and pectus defects. Affected individuals also have non-specific and variable dysmorphic facial features.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SNF2/RAD54 helicase family. SWR1 subfamily.
Cellular localization
- Nucleus
Alternative names
KIAA0309, SRCAP, Helicase SRCAP, Domino homolog 2, Snf2-related CBP activator