BRWD1
Function
May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.
Involvement in disease
Ciliary dyskinesia, primary, 51
CILD51
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD51 is an autosomal recessive form characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced progressive motility. Affected individuals have recurrent upper and lower respiratory infections, and some exhibit dextrocardia and/or situs inversus.
None
The disease may be caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitously expressed (PubMed:12359327). Expressed in respiratory epithelial cells and testis spermatozoa.
Cellular localization
- Cytoplasm
- Nucleus
- Cell projection
- Cilium membrane
- Cytoplasm
- Cytoskeleton
- Flagellum axoneme
Alternative names
C21orf107, WDR9, BRWD1, Bromodomain and WD repeat-containing protein 1, WD repeat-containing protein 9