PCSK1N
Chr Xproprotein convertase subtilisin/kexin type 1 inhibitor
Also known as: BigLEN, PEN, PROSAAS, SAAS, SCG8, SgVIII
The encoded protein functions as a specific inhibitor of prohormone convertase 1 (PCSK1), controlling the proteolytic processing of neuroendocrine peptide precursors including proopiomelanocortin and proenkephalin in the secretory pathway. Mutations in PCSK1N cause autosomal recessive neuronal ceroid lipofuscinosis 14, a form of Batten disease characterized by progressive neurodegeneration with seizures, vision loss, and cognitive decline. The gene shows moderate tolerance to loss-of-function variation with a LOEUF score of 1.25.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
120 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 | 59 | 0 | 59 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 45 | 10 | 0 | 55 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 46 | 71 | 0 | 117 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PCSK1N · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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