ATXN2L

Chr 16

ataxin 2 like

Also known as: A2D, A2LG, A2LP, A2RP

NCBI Gene: 11273 ENSG00000168488 UniProt: Q8WWM7 OMIM: 607931

The protein regulates stress granule and P-body formation, which are cellular structures involved in RNA metabolism and stress response. This gene is extremely intolerant to loss-of-function variants (pLI ~1.0, LOEUF 0.143), suggesting that mutations would likely cause severe developmental consequences, though specific disease associations have not yet been established in humans. The protein belongs to the spinocerebellar ataxia family, indicating potential involvement in neurodegenerative processes affecting cerebellar function.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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

0.14

LOEUF· LoF intol.

LOF

Mechanism· predicted