TRAM1
Chr 8translocation associated membrane protein 1
Also known as: PNAS8, TRAM, TRAMP
The protein facilitates translocation of nascent proteins across the endoplasmic reticulum membrane and regulates proper positioning at the SEC61 channel, playing a critical role in protein processing and quality control. Mutations cause autosomal recessive intellectual disability with congenital malformations affecting multiple organ systems. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
94 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 | 32 | 0 | 32 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 30 | 4 | 0 | 34 |
Likely Benign | 0 | 3 | 0 | 1 | 4 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 34 | 37 | 1 | 72 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TRAM1 · 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
External Resources
Links to major genomics databases and tools