NALF1

Chr 13

NALCN channel auxiliary factor 1

Also known as: FAM155A, NLF-1, NLF1

NCBI Gene: 728215 ENSG00000204442 UniProt: B1AL88

NALF1 encodes an auxiliary component of the NALCN sodium channel complex that regulates resting membrane potential and controls neuronal excitability. Mutations cause neurodevelopmental disorders with intellectual disability, hypotonia, and seizures, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.31), indicating that complete loss of function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

Predicted to contribute to stretch-activated, monoatomic cation-selective, calcium channel activity. Predicted to be involved in calcium ion import across plasma membrane. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

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

0.31

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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