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RELN

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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Secreted

Single cell type specificity

Group enriched (Inhibitory neurons, Hepatic stellate cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (Hep G2, PC-3, SCLC-21H, SH-SY5Y, TIME)

Interaction

Oligomer of disulfide-linked homodimers. Binds to the ectodomains of VLDLR and LRP8/APOER2 (By similarity).

Molecular function

Developmental protein, Hydrolase, Protease, Serine protease

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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