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May play an important role in the developing brain and neuronal differentiation

Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome

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NR2E1 Polyclonal Antibody, 50ul Human Genome Knockout Libraries reliable resultsThe protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene.