Oct-3/4 Monoclonal Antibody, 100ul[BT-MCA0954] Cell Function Analysis Mutations in IGLL1 can result

Mutations in IGLL1 can result in B cell deficiency and agammaglobulinemia

particularly of granule cells

This gene is a candidate gene for autosomal dominant retinitis pigmentosa

Casein kinase I isoform epsilon encoded by CSNK1E is a serine/threonine protein kinase and a member of the casein kinase I protein family

Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles

Oct-3/4 Monoclonal Antibody, 100ul[BT-MCA0954] Cell Function Analysis Mutations in IGLL1 can resultThis gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non AUG translation initiation