This is the amplicon context sequence in accordance with the minimum information for the publication of real-time quantitative PCR experiements (MIQE) guidelines. For more details, please refer to the following publication, "Primer Sequence Disclosure: A Clarification of the MIQE Guidelines."
ddPCR™ Evagreen assay for gene expression analysis. EvaGreen assays consist of unlabeled PCR primer.
Info: EG; Same primer pair as used in qPCR assay qHsaCED0002838; Exonic
The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5 which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain a central pleckstrin homology (PH) domain and a C-terminal phosphotyrosine binding (PTB) domain and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome also known as Phelan-McDermid syndrome. [provided by RefSeq Oct 2011]