组织特异性Widely distributed with highest levels found in thyroid gland, brain and heart. Expressed in a great number of tumor cells.
疾病相关Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]: A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination, most severe in the frontoparietal regions. BFPP clinical manifestations include developmental and psychomotor delay, cerebellar and pyramidal signs, truncal ataxia, seizures, hyperreflexia. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. Note=The disease is caused by mutations affecting the gene represented in this entry.
序列相似性Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. Contains 1 GPS domain.
翻译后修饰The endogenous protein is proteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit.