TTYH3

Chr 7

tweety family member 3

NCBI Gene: 80727 ENSG00000136295 UniProt: Q9C0H2 OMIM: 608919

The protein functions as a calcium-activated chloride channel and volume-regulated anion channel involved in brain cell volume regulation and osmolyte transport. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and brain atrophy. This represents a rare form of early-onset epileptic encephalopathy affecting neurodevelopment.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel. [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

0.21

LOEUF· LoF intol.

Multiple*

Mechanism· predicted