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SPTAN1
Function
Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.
Involvement in disease
Developmental and epileptic encephalopathy 5
DEE5
A disorder characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro.
Sequence similarities
Belongs to the spectrin family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cytoplasm
- Cell cortex
- Expressed along the cell membrane in podocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells.
Alternative names
- Alpha-II spectrin
- Fodrin alpha chain
- NEAS
- SPTA2
- SPTAN1
Database links
Target type
Proteins
Primary research area
Neuroscience
Molecular weight
284539Da