組織特異性Widely distributed with highest levels found in thyroid gland, brain and heart. Expressed in a great number of tumor cells.
関連疾患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.
配列類似性Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. Contains 1 GPS domain.
翻訳後修飾The endogenous protein is proteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit.