Aquaporin 4 Monoclonal Antibody(4H1), 100ul Miscellaneous Mutations in KAL1 cause the

Mutations in KAL1 cause the X-linked Kallmann syndrome

There are five family members in mammals: relA

Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1

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

Since both phosphorylation and glycosylation compete for similar serine or threonine residues| the two processes may compete for sites| or they may alter the substrate specificity of nearby sites by steric or electrostatic effects

Aquaporin 4 Monoclonal Antibody(4H1), 100ul Miscellaneous Mutations in KAL1 cause theThis 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