DOP1 leucine zipper like protein B (DOP1B)

DOP1 leucine zipper like protein B (DOP1B) is a large, ubiquitously expressed protein encoded by the DOP1B gene on human chromosome 21q22.12, just above the Down Syndrome critical region[2]. It features an N-terminal domain, seven predicted transmembrane domains, and a C-terminal leucine zipper-like coiled-coil domain thought to mediate protein-protein interactions[2]. DOP1B is implicated in essential cellular functions including membrane trafficking, particularly regulating endosomal sorting (alongside ATP9A and MON2), and is involved in the differentiation and patterning of embryonic tissues as well as cognition[1][2][3][7]. Overexpression of DOP1B is linked to neuropathological phenotypes in Down syndrome, especially intellectual disability, and may play a role in neurodevelopmental disorders. Although it is not a typical drug target such as a receptor or enzyme, its evolutionary conservation and involvement in fundamental cellular mechanisms, particularly related to the Golgi and endosome network, mark it as a key player in neurodevelopment[1][2][3]. It is not currently the target of any approved drugs or a validated clinical biomarker, but remains of research interest in the context of developmental disorders.

Other names

DOPEY2C21orf5KIAA093321orf5DOP1Bprotein DOP1Bprotein dopey-2dopey family member 2homolog of yeast DOP1mKIAA09330610038M01Rik2610510B01RikRGDI306097