BICRA
Function
Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058). May play a role in BRD4-mediated gene transcription (PubMed:21555454).
Involvement in disease
Coffin-Siris syndrome 12
CSS12
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS12 is an autosomal dominant form characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Most CSS12 patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms the disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed at moderate levels in heart, brain, placenta, skeletal muscle, and pancreas, and at lower levels in lung, liver and kidney.
Cellular localization
- Nucleus
Alternative names
GLTSCR1, BICRA, BRD4-interacting chromatin-remodeling complex-associated protein, Glioma tumor suppressor candidate region gene 1 protein