GPHN

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, Jul 2008]

本基因编码一种神经元组装蛋白，该蛋白通过高亲和力结合至受体亚基结构域和微管二聚体，将抑制性神经递质受体锚定于突触后细胞骨架。在非神经元组织中，编码的蛋白亦为钼辅因子的生物合成所必需。该基因的突变可能与神经系统疾病超复杂症相关，并导致钼辅因子缺乏。已描述多种可变剪接转录变体，编码不同的同种异构体；然而，所有转录变体的全长目前尚不明确。[由RefSeq提供，2008年7月]