PLGRKT
Chr 9plasminogen receptor with a C-terminal lysine
Also known as: AD025, C9orf46, MDS030, PLG-RKT, Plg-R(KT)
The PLGRKT protein serves as a receptor for plasminogen and regulates cell surface plasminogen activation, including involvement in neuroendocrine prohormone processing and inflammatory response regulation. Mutations in PLGRKT cause autosomal recessive plasminogen receptor deficiency, which presents with developmental delays, intellectual disability, and seizures typically manifesting in early childhood. The condition primarily affects the nervous system with additional features that may include growth abnormalities and metabolic dysfunction.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PLGRKT · 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