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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLSCR3
phospholipid scramblase 3
Chromosome 17 · 17p13.1
NCBI Gene: 57048Ensembl: ENSG00000187838.18HGNC: HGNC:16495UniProt: Q9NRY6
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ApoptosisTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
magnesium ion bindingcalcium ion bindingprotein bindingphospholipid scramblase activityneurodegenerative diseasehypertensionhypertriglyceridemia 2obesity due to melanocortin 4 receptor deficiency
✦AI Summary

PLSCR3 is a phospholipid scramblase enzyme that catalyzes calcium-induced, ATP-independent bidirectional movement of phospholipids across mitochondrial membranes 1. The protein localizes to mitochondria through palmitoylation at cysteine residues 159-166, which is essential for its mitochondrial targeting and pro-apoptotic function 2. PLSCR3 plays a critical role in apoptosis by facilitating cardiolipin externalization from the inner to outer mitochondrial membrane, enhancing cytochrome c release and amplifying caspase activity 3. The protein is upregulated during heavy metal-induced apoptosis and serves as a mediator connecting mitochondrial dysfunction to cell death pathways 3. PLSCR3 also regulates mitophagy through TGFB1 signaling, promoting cardiolipin externalization in conjunction with autophagy receptor proteins 4. Additionally, PLSCR3 has been identified as the essential biological target for the mitoprotective drug SS-31, with direct binding stimulating its scramblase activity 1. Loss of PLSCR3 function is associated with metabolic dysfunction, including adiposity, insulin resistance, and dyslipidemia, suggesting roles in lipid metabolism and adipocyte function 5. The protein shows tissue-specific expression patterns and has potential clinical relevance as a biomarker in diabetic retinopathy and acute kidney injury 61.

Sources cited
1
PLSCR3 catalyzes calcium-induced ATP-independent phospholipid scrambling and is the essential target for SS-31 mitoprotective effects
PMID: 38530359
2
PLSCR3 undergoes palmitoylation at cysteines 159-166 which is required for mitochondrial targeting and pro-apoptotic function
PMID: 21785166
3
PLSCR3 mediates cardiolipin translocation and is upregulated during heavy metal-induced apoptosis
PMID: 37341933
4
PLSCR3 regulates mitophagy through TGFB1 signaling by promoting cardiolipin externalization
PMID: 40119553
5
PLSCR3 deletion causes adiposity, insulin resistance, and dyslipidemia, indicating roles in metabolic function
PMID: 15328404
6
PLSCR3 is identified as a potential biomarker in diabetic retinopathy through machine learning analysis
PMID: 39697326
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.44Moderate
hypertensionOpen Targets
0.07Suggestive
hypertriglyceridemia 2Open Targets
0.06Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.06Suggestive
MODYOpen Targets
0.06Suggestive
familial hypercholesterolemiaOpen Targets
0.06Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.05Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.05Suggestive
LIPE-related familial partial lipodystrophyOpen Targets
0.05Suggestive
coronary artery disease, autosomal dominant 2Open Targets
0.05Suggestive
PLIN1-related familial partial lipodystrophyOpen Targets
0.05Suggestive
hypoinsulinemic hypoglycemia and body hemihypertrophyOpen Targets
0.05Suggestive
AKT2-related familial partial lipodystrophyOpen Targets
0.05Suggestive
Familial partial lipodystrophy due to AKT2 mutationsOpen Targets
0.05Suggestive
obesity due to prohormone convertase I deficiencyOpen Targets
0.05Suggestive
metabolic syndromeOpen Targets
0.05Suggestive
Combined hyperlipidemiaOpen Targets
0.05Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.04Suggestive
Hyperlipoproteinemia type 1Open Targets
0.04Suggestive
Familial partial lipodystrophy, Köbberling typeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BCL2L13Shared pathway40%BCL2L14Shared pathway33%PLSCR4Shared pathway32%PPP1R13BShared pathway29%DFFAShared pathway29%DEDDShared pathway25%
Tissue Expression6 tissues
Lung
100%
Ovary
92%
Liver
48%
Heart
24%
Brain
12%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
PLSCR3BCL2L13BCL2L14PLSCR4PPP1R13BDFFADEDD
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NRY6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.37–0.83]
RankingsWhere PLSCR3 stands among ~20K protein-coding genes
  • #10,835of 20,598
    Most Researched36
  • #7,127of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedPLSCR3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative analysis of PANoptosis-related genes in diabetic retinopathy: machine learning identification and experimental validation.
PMID: 39697326
Front Immunol · 2024
1.00
2
Genome-Wide CRISPR Screen Identifies Phospholipid Scramblase 3 as the Biological Target of Mitoprotective Drug SS-31.
PMID: 38530359
J Am Soc Nephrol · 2024
0.90
3
Therapeutic Approaches Involving Mitochondria in the Treatment of Acute Kidney Injury.
PMID: 41027799
Semin Nephrol · 2026
0.80
4
TGFB signaling induces mitophagy via PLSCR3-mediated cardiolipin externalization in conjunction with a BNIP3L/NIX-, BNIP3-, and FUNDC1-dependent mechanism.
PMID: 40119553
Autophagy · 2025
0.70
5
Phospholipid scramblase isoform expression in pregnant rat uterus.
PMID: 16979355
J Soc Gynecol Investig · 2006
0.60