Western blot analysis of Lane 1: Human cell line RT-4, Lane 2: Human cell line U-251MG sp, Lane 3: Human plasma (IgG/HSA depleted), Lane 4: Human liver tissue, Lane 5: Human tonsil tissue with GPHN polyclonal antibody (Cat # PAB28735).
Immunohistochemical staining of human small intestine with GPHN polyclonal antibody (Cat # PAB28735) shows cytoplasmic positivity in glandular cells.
This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq