External Ids for RELN Gene
Previous GeneCards Identifiers for RELN Gene
This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for RELN Gene
RELN (Reelin) is a Protein Coding gene. Diseases associated with RELN include Epilepsy, Familial Temporal Lobe, 7 and Lissencephaly 2. Among its related pathways are Focal Adhesion and Reelin Pathway (Cajal-Retzius cells). Gene Ontology (GO) annotations related to this gene include serine-type peptidase activity and very-low-density lipoprotein particle receptor binding.
UniProtKB/Swiss-Prot for RELN Gene
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 LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation (By similarity).