DNMBP
Function
Plays a critical role as a guanine nucleotide exchange factor (GEF) for CDC42 in several intracellular processes associated with the actin and microtubule cytoskeleton. Regulates the structure of apical junctions through F-actin organization in epithelial cells (PubMed:17015620, PubMed:19767742). Participates in the normal lumenogenesis of epithelial cell cysts by regulating spindle orientation (PubMed:20479467). Plays a role in ciliogenesis (By similarity). May play a role in membrane trafficking between the cell surface and the Golgi (By similarity).
Involvement in disease
Cataract 48
CTRCT48
A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Detected in heart, brain, lung, liver, skeletal muscle, kidney and pancreas.
Cellular localization
- Cytoplasm
- Golgi apparatus
- Golgi stack
- Cytoplasm
- Cytoskeleton
- Synapse
- Cell junction
- Localizes to the apical junction, colocalizes with TJP1.
Alternative names
ARHGEF36, KIAA1010, TUBA, DNMBP, Dynamin-binding protein, Scaffold protein Tuba