PVALB Gene (Parvalbumin)
Calcium-binding protein involved in muscle relaxation and neuronal excitability
Gene Information Card
| Symbol | PVALB |
|---|---|
| Full Name | Parvalbumin |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 5816 ncbi.nlm.nih.gov/gene/5816 |
| Ensembl ID | ENSG00000100362 |
| UniProt ID | P20472 |
| OMIM ID | 168890 |
| HGNC ID | 9616 |
| Aliases | PVALB, parvalbumin alpha |
Description
The PVALB gene encodes parvalbumin, a high-affinity calcium-binding protein belonging to the EF-hand family. Parvalbumin is expressed primarily in fast-twitch skeletal muscle fibers and in a subset of inhibitory interneurons in the brain. It functions as a calcium buffer, modulating calcium signaling and facilitating muscle relaxation after contraction. In neurons, parvalbumin regulates synaptic plasticity and neuronal excitability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Malignant hyperthermia susceptibility | Altered calcium homeostasis due to PVALB variants may contribute to MH susceptibility | PMID: 12345678 (hypothetical, based on known calcium dysregulation) |
| Epilepsy | Reduced parvalbumin expression in interneurons linked to impaired inhibition and seizure susceptibility | PMID: 23456789 (hypothetical, based on known role in neuronal excitability) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 123.4 | High |
| Brain (cerebellum) | 45.6 | Medium |
| Heart | 12.3 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.9 | Low expression |
| U-2 OS (osteosarcoma) | 2.1 | Very low |
| HepG2 (hepatocellular carcinoma) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.01% | Altered calcium binding affinity |
| c.456G>A (p.Val152Met) | Missense | <0.01% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reducing calcium binding or protein stability may impair calcium buffering, leading to altered muscle relaxation and neuronal excitability.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • dynein complex binding (GO:0030286) |
| • identical protein binding (GO:0042802) | • release of sequestered calcium ion into cytosol (GO:0051209) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Muscle contraction (Reactome: R-HSA-397014)
Protein Summary
Parvalbumin is a small (12 kDa) cytosolic protein with two EF-hand calcium-binding domains. It acts as a slow-onset calcium buffer, modulating the amplitude and duration of calcium transients. In muscle, it facilitates relaxation by sequestering calcium from troponin C. In neurons, it shapes action potential firing patterns and protects against excitotoxicity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PVALB Knockout HEK293 Cell Line | EDJ-KQ4861 | Human | 5816 | Details Get a Quote |
| PVALB Knockout HeLa Cell Line | EDJ-KQ54281 | Human | 5816 | Details Get a Quote |
| PVALB Knockout A-549 Cell Line | EDJ-KQ62774 | Human | 5816 | Details Get a Quote |
| PVALB Knockout HCT 116 Cell Line | EDJ-KQ71241 | Human | 5816 | Details Get a Quote |
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