NALF1
Chr 13NALCN channel auxiliary factor 1
Also known as: FAM155A, NLF-1, NLF1
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 116 | 0 | 116 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 52 | 12 | 0 | 64 |
Likely Benign | 0 | 2 | 6 | 1 | 9 |
Benign | 0 | 0 | 3 | 0 | 3 |
| Total | 0 | 54 | 137 | 1 | 192 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NALF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools