MRUPAV_PLIN4
- Gene
- PLIN4
- Disease
- MRUPAV
- Inheritance
- AD
- Classification
- Strong
- Total Score
- 12.5
- Publications Reviewed
- 6
- Publication Span
- 0.83 years
- Last Updated
- 8/11/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.
Genetic evidence
Total: 8.5
| Singular Evidence | Probands | PMID:36151849 PMID:32451610 | 6 | 36151849, one family one sporadic case. 32451610 1 kindred and characterization | ||
| Collective Evidence | Allele | PMID:37145156 | 1 | |||
| Collective Evidence | Computational | PMID:40693562 PMID:39102614 | 0 | no 40693562. 39102614 family with patient cells | ||
| Collective Evidence | Segregation | PMID:36151849 | 1.5 |
4 rows
Experimental evidence
Total: 4
| Function | Biochemical function | PMID:40693562 | 0.5 | changes in binding specificity to LD and may induce targetting of cwellular membrane -- structural roles | ||
| Function | Protein interaction | PMID:35499779 PMID:40693562 | 1.5 | patient cells, proteins | more hydrophobicity | |
| Function | Regulatory Impact | PMID:40693562 | 0 | No impact on splicing? | ||
| Functional Alteration | Patient cells | PMID:37145156 | 1 | patient cells | ||
| Models | Cell culture | PMID:40693562 | 1 | muscle of healthy controls |
5 rows