Aquaporin 4 Monoclonal Antibody(4H1), 100ul Miscellaneous The encoded protein is involved

The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane

The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line

disease:A chromosomal aberration involving BCL6 may be a cause of a form of B-cell leukemia

Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies

Recombination of these breakpoints results in the fusion of this gene and JAZF1

Aquaporin 4 Monoclonal Antibody(4H1), 100ul Miscellaneous The encoded protein is involvedThis gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene