Dab1 ist ein Gen, das durch das Symbol DAB1 kodiert wird. Es ist auch bekannt als Disabled homolog 1. Dab1 hat eine Masse von 63.78kDa, eine Aminosäurelänge von 588, und ist an Spinocerebellar ataxia 37 beteiligt.
Wir bieten 9 antikörper gegen Dab1, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Adapter molecule functioning in neural development. May regulate SIAH1 activity.
Entrez Zusammenfassung
The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain.
Gewebespezifität
Mainly expressed in brain.
Rolle bei Krankheiten
Spinocerebellar ataxia 37: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA37 is an autosomal dominant form characterized by adult-onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging.
Posttranslationale Modifikation
Phosphorylated on Tyr-198 and Tyr-220 upon reelin induction in embryonic neurons. Also phosphorylated on Ser-524 independently of reelin signaling.
