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RELN reelin

Also known as: RL; LIS2; PRO1598

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Lissencephaly 2
MedGen: C0796089OMIM: 257320GeneReviews: Not available
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Genomic context

Location:
7q22
Sequence:
Chromosome: 7; NC_000007.14 (103471784..103989516, complement)
Total number of exons:
65

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