Dab1 è un gene codificato dal simbolo DAB1. È noto anche come Disabled homolog 1. Dab1 ha una massa di 63.78kDa, una lunghezza di amminoacidi di 588, ed è implicato in Spinocerebellar ataxia 37.
Offriamo 9 anticorpi contro Dab1, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Adapter molecule functioning in neural development. May regulate SIAH1 activity.
Sommario di Entrez
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.
Specificità del tessuto
Mainly expressed in brain.
Coinvolgimento nella malattia
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.
Modifica post-translazionale
Phosphorylated on Tyr-198 and Tyr-220 upon reelin induction in embryonic neurons. Also phosphorylated on Ser-524 independently of reelin signaling.
