LIAT1

Chr 17

ligand of ATE1

Also known as: C17orf97, CK20

NCBI Gene: 400566 ENSG00000187624 UniProt: Q6ZQX7

The LIAT1 protein participates in nucleolar liquid-liquid phase separation and may be involved in protein arginylation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene shows low constraint to loss-of-function variation, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

Predicted to enable molecular condensate scaffold activity. Predicted to be involved in membraneless organelle assembly and protein arginylation. Predicted to be located in cytoplasm. Predicted to be active in nucleolus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.97

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)