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LIS2

Chr 7AR

reelin

Also known as: ETL7, LIS2, PRO1598, RL

NCBI Gene: 5649 OMIM: 257320

This gene encodes a large secreted extracellular matrix protein that controls cell-cell interactions critical for neuronal positioning and migration during brain development. Mutations cause autosomal recessive lissencephaly 2 (Norman-Roberts type), characterized by lissencephaly with cerebellar hypoplasia. The condition follows autosomal recessive inheritance and represents a severe developmental brain malformation affecting cortical and cerebellar development.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…