功能： developmental stage:Expressed in fetal and postnatal brain and liver. Expression in postnatal human brain is high in the cerebellum.,disease:Defects in RELN are the cause of lissencephaly type 2 (LIS2) [MIM:257320]; also known as lissencephaly with cerebellar hypoplasia or Norman-Roberts syndrome. LIS2 is a classic type lissencephaly associated with abnormalities of the cerebellum, hippocampus and brainstem. Individuals with LIS2 are severely ataxic, mentally retarded and suffer from epilepsy.,disease:Defects in RELN may contribute to susceptibility to schizophrenia. Expression of the protein is reduced to about 50% in patients with schizophrenia.,disease:Defects in RELN may predispose to autistic disorder. A polymorphic GGC triplet repeat located in the 5'-UTR region of RELN gene, which harbors in the normal population 8 to 10 repeats, is significantly increased in autistic patients to carry 4 to 23 additional repeats.,domain:The basic C-terminal region is essential for secretion.,function:Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein receptors VLDLR and ApoER2 induces tyrosine phosphorylation of Dab1 and modulation of Tau phosphorylation.,online information:Reelin entry,similarity:Belongs to the reelin family.,similarity:Contains 1 reelin domain.,similarity:Contains 16 BNR repeats.,similarity:Contains 8 EGF-like domains.,subunit:Binds to the ectodomains of VLDLR and ApoER2.,tissue specificity:Abundantly produced during brain ontogenesis by the Cajal-Retzius cells and other pioneer neurons located in the telencephalic marginal zone and by granule cells of the external granular layer of the cerebellum. In adult brain, preferentially expressed in GABAergic interneurons of prefrontal cortices, temporal cortex, hippocampus and glutamatergic granule cells of cerebellum. Also expressed in fetal and adult liver.,
组织表达： Abundantly produced during brain ontogenesis by the Cajal-Retzius cells and other pioneer neurons located in the telencephalic marginal zone and by granule cells of the external granular layer of the cerebellum. In adult brain, preferentially expressed in GABAergic interneurons of prefrontal cortices, temporal cortex, hippocampus and glutamatergic granule cells of cerebellum. Expression is reduced to about 50% in patients with schizophrenia. Also expressed in fetal and adult liver.
功能： developmental stage:Expressed in fetal and postnatal brain and liver. Expression in postnatal human brain is high in the cerebellum.,disease:Defects in RELN are the cause of lissencephaly type 2 (LIS2) [MIM:257320]; also known as lissencephaly with cerebellar hypoplasia or Norman-Roberts syndrome. LIS2 is a classic type lissencephaly associated with abnormalities of the cerebellum, hippocampus and brainstem. Individuals with LIS2 are severely ataxic, mentally retarded and suffer from epilepsy.,disease:Defects in RELN may contribute to susceptibility to schizophrenia. Expression of the protein is reduced to about 50% in patients with schizophrenia.,disease:Defects in RELN may predispose to autistic disorder. A polymorphic GGC triplet repeat located in the 5'-UTR region of RELN gene, which harbors in the normal population 8 to 10 repeats, is significantly increased in autistic patients to carry 4 to 23 additional repeats.,domain:The basic C-terminal region is essential for secretion.,function:Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein receptors VLDLR and ApoER2 induces tyrosine phosphorylation of Dab1 and modulation of Tau phosphorylation.,online information:Reelin entry,similarity:Belongs to the reelin family.,similarity:Contains 1 reelin domain.,similarity:Contains 16 BNR repeats.,similarity:Contains 8 EGF-like domains.,subunit:Binds to the ectodomains of VLDLR and ApoER2.,tissue specificity:Abundantly produced during brain ontogenesis by the Cajal-Retzius cells and other pioneer neurons located in the telencephalic marginal zone and by granule cells of the external granular layer of the cerebellum. In adult brain, preferentially expressed in GABAergic interneurons of prefrontal cortices, temporal cortex, hippocampus and glutamatergic granule cells of cerebellum. Also expressed in fetal and adult liver.,
组织表达： Abundantly produced during brain ontogenesis by the Cajal-Retzius cells and other pioneer neurons located in the telencephalic marginal zone and by granule cells of the external granular layer of the cerebellum. In adult brain, preferentially expressed in GABAergic interneurons of prefrontal cortices, temporal cortex, hippocampus and glutamatergic granule cells of cerebellum. Expression is reduced to about 50% in patients with schizophrenia. Also expressed in fetal and adult liver.
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