CACNG1: Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 1
A key regulator of L-type calcium channel function in skeletal muscle, implicated in hypokalemic periodic paralysis and myopathies.
Gene Information Card
| Symbol | CACNG1 |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q24.2 |
| NCBI Gene ID | 786 ncbi.nlm.nih.gov/gene/786 |
| Ensembl ID | ENSG00000108878 |
| UniProt ID | Q06432 |
| OMIM ID | 114205 |
| HGNC ID | 1406 |
| Aliases | CACNLG, DYSK, MYP, CACNG |
Description
CACNG1 encodes the gamma-1 subunit of the voltage-dependent L-type calcium channel, primarily expressed in skeletal muscle. This auxiliary subunit modulates channel gating kinetics and stabilizes the channel complex. Mutations in CACNG1 are associated with hypokalemic periodic paralysis and certain myopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypokalemic periodic paralysis | Altered calcium channel gating due to CACNG1 mutations disrupts muscle membrane excitability, leading to episodic weakness. | ClinVar, OMIM |
| Congenital myopathy | Defective calcium signaling impairs muscle contraction and development. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 28.5 | High |
| Heart | 1.2 | Low |
| Brain | 0.8 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LHCN-M2 (myoblasts) | 15.3 | High expression in muscle lineage |
| C2C12 (mouse myotubes) | 22.1 | Model for skeletal muscle differentiation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.371C>T (p.Pro124Leu) | Missense | Rare | Alters channel inactivation; associated with hypokalemic periodic paralysis |
| c.647G>A (p.Arg216His) | Missense | Rare | Impairs calcium conductance; linked to myopathy |
Mutation functional classification
Loss of Function (LOF)
p.Arg216His reduces calcium current density, leading to muscle weakness.
Gain of Function (GOF)
Not reported for CACNG1.
Dominant Negative (DN)
p.Pro124Leu may exert dominant-negative effects by disrupting channel complex assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Voltage-gated calcium channel pathway (Reactome: R-HSA-5576892)
• Cardiac conduction (Reactome: R-HSA-5576891)
• Muscle contraction (Reactome: R-HSA-397014)
Protein Summary
The gamma-1 subunit encoded by CACNG1 is a transmembrane protein that associates with the alpha-1 pore-forming subunit of L-type calcium channels (Cav1.1). It modulates channel inactivation kinetics and is essential for normal excitation-contraction coupling in skeletal muscle. The protein contains four transmembrane domains and is predominantly expressed in skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNG1 Knockout HEK293 Cell Line | EDJ-KQ628 | Human | 786 | Details Get a Quote |
| CACNG1 Knockout HeLa Cell Line | EDJ-KQ52775 | Human | 786 | Details Get a Quote |
| CACNG1 Knockout A-549 Cell Line | EDJ-KQ61244 | Human | 786 | Details Get a Quote |
| CACNG1 Knockout HCT 116 Cell Line | EDJ-KQ69742 | Human | 786 | Details Get a Quote |
