ANKRD46

Chr 8

ankyrin repeat domain 46

Also known as: ANK-S, GENX-115279

NCBI Gene: 157567 ENSG00000186106 UniProt: Q86W74

This gene encodes a protein containing multiple ankyrin repeats that mediate protein-protein interactions in various cellular processes. Mutations cause autosomal recessive intellectual disability with seizures and spastic paraplegia. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.597), consistent with its role in neurodevelopmental disorders.

ResearchSummary from RefSeq

This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

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

0.60

LOEUF

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Mechanism

Some data sources returned errors (1)

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