DNMBP

This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Full Name

Dynamin Binding Protein

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:19767742, PubMed:17015620).

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).

Biological Process

Aging Source: Ensembl
Intracellular signal transduction Source: InterPro
Regulation of cell shape Source: UniProtKB
Regulation of small GTPase mediated signal transduction Source: Reactome

Cellular Location

Cytoskeleton; Cytoplasm; Golgi stack; Synapse; Cell junction. Localizes to the apical junction, colocalizes with TJP1.

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.