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.
Pathway
GABAergic synapse, organism-specific biosystem; GABAergic synapse, conserved biosystem; Metabolism, organism-specific biosystem; Metabolism of vitamins and cofactors, organism-specific biosystem; Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem; Molybdenum cofactor biosynthesis, organism-specific biosystem; molybdenum cofactor biosynthesis, conserved biosystem;
Citations
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