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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLLP
plasmolipin
Chromosome 16 · 16q13
NCBI Gene: 51090Ensembl: ENSG00000102934.11HGNC: HGNC:18553UniProt: Q9Y342
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of transcytosisidentical protein bindingplasma membraneretinitis pigmentosaretinitis pigmentosa with or without situs inversusskin diseaseMicroscopic hematuria
✦AI Summary

Plasmolipin (PLLP) is a main component of the myelin sheath that plays a crucial role in myelin membrane biogenesis and myelination 1. The protein localizes to and recycles between the plasma membrane and Golgi complex, where it forms oligomers through fluorescence resonance energy transfer interactions 1. PLLP functions by inducing liquid-ordered membrane domains in the Golgi complex, which serve as potential myelin membrane precursor sites 1. The protein blocks Golgi-to-plasma membrane transport of certain secretory proteins, suggesting its role in organizing specialized membrane domains 1. PLLP interacts with ganglioside GM1 in lipid rafts, inducing structural changes in its extracellular loops that propagate conformational signals through the plasma membrane via cholesterol molecules, ultimately reaching the intracellular domain 2. In disease contexts, PLLP has been implicated in various pathological conditions including cancer, neurological disorders, and type 2 diabetes 3. Additionally, PLLP knockout in endothelial cells enhances cell survival under hypoxic conditions by promoting AKT and ERK1/2 phosphorylation, increasing proliferation, metabolism, and angiogenesis 4. Genome-wide association studies have also identified PLLP variants associated with hematuria 5.

Sources cited
1
PLLP is a main component of myelin sheath, forms oligomers in Golgi complex, and induces liquid-ordered membrane domains for myelin biogenesis
PMID: 26002055
2
PLLP interacts with ganglioside GM1 in lipid rafts and transmits conformational signals through the membrane via cholesterol
PMID: 37664934
3
PLLP is implicated in various diseases including cancer, neurological disorders, and type 2 diabetes
PMID: 34837695
4
PLLP knockout enhances endothelial cell survival under hypoxia through AKT and ERK1/2 pathway activation
PMID: 40379643
5
PLLP variants are associated with hematuria in genome-wide association studies
PMID: 35474271
Disease Associationsⓘ20
retinitis pigmentosaOpen Targets
0.40Weak
retinitis pigmentosa with or without situs inversusOpen Targets
0.40Weak
skin diseaseOpen Targets
0.30Weak
Microscopic hematuriaOpen Targets
0.27Weak
pathological myopiaOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
Retinal dystrophyOpen Targets
0.16Weak
Testicular regression syndromeOpen Targets
0.03Suggestive
small cell lung carcinomaOpen Targets
0.03Suggestive
rosaceaOpen Targets
0.02Suggestive
medulloblastomaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
psoriasisOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
dry eye syndromeOpen Targets
0.02Suggestive
sessile serrated polypOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYADMProtein interaction92%CKLFProtein interaction85%PLP1Protein interaction71%CMTM8Shared pathway25%TMEM266Shared pathway25%MAL2Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Lung
38%
Liver
16%
Bone Marrow
11%
Heart
9%
Ovary
7%
Gene Interaction Network
Click a node to explore
PLLPMYADMCKLFPLP1CMTM8TMEM266MAL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y342
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.40LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.59–1.40]
RankingsWhere PLLP stands among ~20K protein-coding genes
  • #12,851of 20,598
    Most Researched26
  • #14,501of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedPLLP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GWAS of Hematuria.
PMID: 35474271
Clin J Am Soc Nephrol · 2022
1.00
2
Plasmolipin deficiency is essential for HUVECs survival under hypoxic conditions.
PMID: 40379643
Cell Death Discov · 2025
0.90
3
In toto imaging of the migrating Zebrafish lateral line primordium at single cell resolution.
PMID: 27965055
Dev Biol · 2017
0.80
4
Polarization and migration in the zebrafish posterior lateral line system.
PMID: 28369079
PLoS Comput Biol · 2017
0.70
5
Assessing resilience.
PMID: 20000280
J Psychosoc Nurs Ment Health Serv · 2009
0.60