NOMO1
Chr 16NODAL modulator 1
Also known as: Nomo, PM5
NOMO1 encodes a component of the multi-pass translocon complex that mediates insertion of multi-pass membrane proteins into cellular membranes, taking over from the SEC61 complex to facilitate insertion of subsequent transmembrane regions. This gene is not well-established as a cause of human disease, with mutations in the nearby ABCC6 gene rather than NOMO1 being responsible for pseudoxanthoma elasticum. The gene shows minimal constraint against loss-of-function variants, suggesting it may be tolerant to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
364 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 | 63 | 0 | 63 |
Likely Pathogenic | 0 | 0 | 23 | 0 | 23 |
VUS | 0 | 168 | 69 | 0 | 237 |
Likely Benign | 0 | 7 | 3 | 7 | 17 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 175 | 158 | 8 | 341 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NOMO1 · 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