ASTN1

Chr 1

astrotactin 1

Also known as: ASTN

NCBI Gene: 460 ENSG00000152092 UniProt: O14525 OMIM: 600904

Astrotactin is a neuronal adhesion molecule that mediates glial-guided migration of postmitotic neuroblasts during brain development, particularly in the cerebrum, hippocampus, cerebellum, and olfactory bulb. Mutations cause autosomal dominant cortical dysplasia-complex with other brain malformations, typically manifesting as developmental abnormalities affecting multiple brain regions. The gene is highly constrained against loss-of-function variants, indicating that even heterozygous disruption can cause significant neurodevelopmental phenotypes.

OMIM ResearchSummary from RefSeq, UniProt

Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.21

LOEUF· LoF intol.

LOF

Mechanism· predicted