HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PISD
phosphatidylserine decarboxylase
Chromosome 22 Β· 22q12.2
NCBI Gene: 23761Ensembl: ENSG00000241878.13HGNC: HGNC:8999UniProt: Q9UG56
58PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
phosphatidylserine decarboxylase activityphosphatidylethanolamine biosynthetic processregulation of mitochondrion organizationmitochondrial protein catabolic processLiberfarb syndrometype 2 diabetes mellitusdiabetes mellitusalcohol drinking
✦AI Summary

PISD (phosphatidylserine decarboxylase) is a mitochondrial enzyme that catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine (PtdEtn) in the inner mitochondrial membrane 1. This conversion is central to phospholipid metabolism and interorganelle trafficking of phosphatidylserine 2. The enzyme undergoes autocatalytic self-processing to generate its active heteromeric form 3. PISD dysfunction impairs mitochondrial function, as evidenced by fragmented mitochondrial networks, decreased oxidative phosphorylation, and increased metabolic stress sensitivity in patient fibroblasts 1. Phosphatidylethanolamine synthesized by PISD is essential for autophagosome biogenesis; restoring PISD-dependent PE production enhances autophagy and tau clearance in tauopathy neurons 4. Additionally, PISD regulates the mitochondrial permeability transition pore through interaction with SPG7, controlling necroptosis pathways 5. Biallelic PISD variants cause a spectrum of mitochondrial diseases ranging from skeletal dysplasia with short stature and spondyloepimetaphyseal dysplasia to multisystem disorders affecting eyes, ears, bones, and brain 36. These pathogenic variants impair enzyme autoprocessing or catalytic activity, resulting in mitochondrial dysfunction 1. PISD dysregulation is implicated in Alzheimer's disease and other neurodegenerative conditions 2.

Sources cited
1
PISD converts phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane; PISD variants cause mitochondrial dysfunction with fragmented mitochondria and impaired respiration
PMID: 30858161
2
PISD is involved in phospholipid interconversion and dysregulation is implicated in nonalcoholic fatty liver disease, Alzheimer's disease, and metabolic disorders
PMID: 39409074
3
Phosphatidylethanolamine supplied by PISD is required for autophagosome biogenesis and tau clearance in Alzheimer's disease
PMID: 39171695
4
PISD expression in the inner mitochondrial membrane regulates mitochondrial permeability transition pore opening through SPG7 interaction
PMID: 40780696
5
Biallelic PISD variants cause spondyloepimetaphyseal dysplasia; PISD undergoes autocatalytic self-processing to generate its active form
PMID: 38801004
6
Biallelic PISD variants are associated with skeletal dysplasia as a novel gene-disease relationship
PMID: 39706863
Disease Associationsβ“˜21
Liberfarb syndromeOpen Targets
0.70Strong
type 2 diabetes mellitusOpen Targets
0.37Weak
diabetes mellitusOpen Targets
0.32Weak
alcohol drinkingOpen Targets
0.30Weak
pneumococcal pneumoniaOpen Targets
0.28Weak
connective tissue diseaseOpen Targets
0.27Weak
Genu valgumOpen Targets
0.27Weak
Genu varumOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
skeletal dysplasiaOpen Targets
0.19Weak
Intellectual disabilityOpen Targets
0.19Weak
cataractOpen Targets
0.18Weak
deafnessOpen Targets
0.18Weak
microcephalyOpen Targets
0.18Weak
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
placenta praeviaOpen Targets
0.08Suggestive
bipolar disorderOpen Targets
0.07Suggestive
glycogen storage disease due to lactate dehydrogenase H-subunit deficiencyOpen Targets
0.07Suggestive
alcohol sensitivity, acuteOpen Targets
0.05Suggestive
acatalasiaOpen Targets
0.05Suggestive
Liberfarb syndromeUniProt
Pathogenic Variants11
NM_001326411.2(PISD):c.899G>A (p.Cys300Tyr)Pathogenic
Liberfarb syndrome
β˜…β˜…β˜†β˜†β†’ Residue 300
NM_001326411.2(PISD):c.337dup (p.Ser113fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 113
NM_001326411.2(PISD):c.559-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001326411.2(PISD):c.51_52insT (p.Pro18fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 18
NM_001326411.2(PISD):c.322-1890_322-1889delLikely pathogenic
Liberfarb syndrome
β˜…β˜†β˜†β˜†2024
NM_001326411.2(PISD):c.698-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001326411.2(PISD):c.175C>T (p.Arg59Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 59
NM_001326411.2(PISD):c.845-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001326411.2(PISD):c.643del (p.Leu215fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 215
NM_001326411.2(PISD):c.1006-12_1006-3delPathogenic
Liberfarb syndrome
β˜†β˜†β˜†β˜†2020
NM_001326411.2(PISD):c.697+5G>APathogenic
PISD-related mitochondrial disease|Liberfarb syndrome
β˜†β˜†β˜†β˜†2020
View on ClinVar β†—
Related Genes
PLD1Protein interaction98%PLD2Protein interaction98%PTDSS1Protein interaction98%LPCAT3Protein interaction98%PEMTProtein interaction98%PLAAT3Protein interaction98%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
84%
Liver
75%
Ovary
71%
Brain
52%
Heart
40%
Gene Interaction Network
Click a node to explore
PISDPLD1PLD2PTDSS1LPCAT3PEMTPLAAT3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UG56
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.53–0.98]
RankingsWhere PISD stands among ~20K protein-coding genes
  • #7,901of 20,598
    Most Researched58
  • #2,777of 5,498
    Most Pathogenic Variants11
  • #9,327of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedPISD
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Biochemistry and Diseases Related to the Interconversion of Phosphatidylcholine, Phosphatidylethanolamine, and Phosphatidylserine.
PMID: 39409074
Int J Mol Sci Β· 2024
1.00
2
Mitochondrial bioenergetics stimulates autophagy for pathological MAPT/Tau clearance in tauopathy neurons.
PMID: 39171695
Autophagy Β· 2025
0.90
3
PMID: 30858161
Life Sci Alliance Β· 2019
0.80
4
Post-irradiation endolymphatic hydrops vs. post-irradiation sudden deafness.
PMID: 36265683
Radiother Oncol Β· 2022
0.70
5
Mechanism of PISD/SPG7-mediated mPTP opening in necroptosis of inflammatory HaCaT cells induced by nano-zinc oxide.
PMID: 40780696
Toxicology Β· 2025
0.60