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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PVALB
parvalbumin
Chromosome 22 · 22q12.3
NCBI Gene: 5816Ensembl: ENSG00000100362.14HGNC: HGNC:9704UniProt: P20472
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
calcium ion bindingcytoplasmrelaxation of muscleaxonatopic eczemadiabetic ketoacidosisschizophreniamyeloid sarcoma
✦AI Summary

PVALB encodes parvalbumin, a calcium-binding protein primarily expressed in fast-spiking GABAergic interneurons throughout the central nervous system. In muscle, parvalbumin facilitates relaxation after contraction by binding two calcium ions 12. In the brain, PVALB+ interneurons form distinct neuronal subtypes critical for neural circuit function. These cells orchestrate social memory through corticothalamic circuits in the thalamic reticular nucleus 3 and regulate cortical network activity including gamma-band oscillations 4. PVALB+ interneurons exhibit selective vulnerability in neurodegenerative and neuropsychiatric diseases. In Alzheimer's disease, loss of PVALB+ inhibitory neurons occurs during advanced disease stages 5, with early synaptic dysfunction involving PVALB dysregulation identified as a disease marker 6. In epilepsy, PVALB+ interneuron subtypes show significant transcriptomic changes and circuit dysfunction 7. Schizophrenia-associated structural variants impair PVALB+ interneuron development, migration, and function 48. Reduced PVALB expression has been documented in autism spectrum disorder and schizophrenia patients 9. Stem cell-derived PVALB+ interneurons successfully differentiate and mature, providing therapeutic potential for drug-resistant epilepsy 10.

Sources cited
1
PVALB encodes parvalbumin that binds two calcium ions
PMID: 39584689
2
Parvalbumin binds calcium ions, involved in muscle relaxation
PMID: 15122922
3
PVALB+ neurons in thalamic reticular nucleus orchestrate social memory through corticothalamic circuits
PMID: 38701789
4
PVALB+ cortical interneurons regulate cortical network activity and gamma-band oscillations; schizophrenia-associated variants affect their development and function
PMID: 40695284
5
Loss of PVALB+ inhibitory neurons occurs in late-stage Alzheimer's disease
PMID: 39402379
6
PVALB is a marker gene for early Alzheimer's disease synaptic abnormality subtype
PMID: 39650656
7
PVALB+ interneuron subtypes show transcriptomic changes in temporal lobe epilepsy
PMID: 33028830
8
Schizophrenia-associated variants disrupt PVALB+ interneuron development and migration
PMID: 39651135
9
PVALB expression is reduced in autism spectrum disorder and schizophrenia patients
PMID: 30883994
10
Stem cell-derived PVALB+ interneurons mature and show potential for treating drug-resistant epilepsy
PMID: 40651475
Disease Associationsⓘ20
atopic eczemaOpen Targets
0.28Weak
diabetic ketoacidosisOpen Targets
0.23Weak
schizophreniaOpen Targets
0.10Weak
myeloid sarcomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
Alpers syndromeOpen Targets
0.08Suggestive
obesityOpen Targets
0.06Suggestive
Dravet syndromeOpen Targets
0.05Suggestive
major depressive disorderOpen Targets
0.05Suggestive
central nervous system cancerOpen Targets
0.05Suggestive
combined oxidative phosphorylation deficiency 46Open Targets
0.05Suggestive
clear cell renal carcinomaOpen Targets
0.05Suggestive
papillary renal cell carcinomaOpen Targets
0.04Suggestive
strokeOpen Targets
0.04Suggestive
Barth syndromeOpen Targets
0.04Suggestive
autismOpen Targets
0.04Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
ependymomaOpen Targets
0.03Suggestive
epilepsyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GAD1Protein interaction97%CALB2Protein interaction97%CALB1Protein interaction96%SSTProtein interaction94%MECP2Protein interaction89%S100GProtein interaction86%
Tissue Expression6 tissues
Brain
100%
Liver
3%
Lung
1%
Ovary
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PVALBGAD1CALB2CALB1SSTMECP2S100G
PROTEIN STRUCTURE
Preparing viewer…
PDB9BB8 · 2.72 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.56LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.55–1.56]
RankingsWhere PVALB stands among ~20K protein-coding genes
  • #7,499of 20,598
    Most Researched62
  • #15,478of 17,882
    Most Constrained (LOEUF)1.56
Genes detectedPVALB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrated multimodal cell atlas of Alzheimer's disease.
PMID: 39402379
Nat Neurosci · 2024
1.00
2
Forebrain assembloids support the development of fast-spiking human PVALB+ cortical interneurons and uncover schizophrenia-associated defects.
PMID: 40695284
Neuron · 2025
0.90
3
The thalamic reticular nucleus orchestrates social memory.
PMID: 38701789
Neuron · 2024
0.80
4
Identification of epilepsy-associated neuronal subtypes and gene expression underlying epileptogenesis.
PMID: 33028830
Nat Commun · 2020
0.70
5
Cortical assembloids support the development of fast-spiking human PVALB+ cortical interneurons and uncover schizophrenia-associated defects.
PMID: 39651135
bioRxiv · 2024
0.60