SPTBN1
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. Plays a critical role in central nervous system development and function.
Involvement in disease
Developmental delay, impaired speech, and behavioral abnormalities
DDISBA
An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the spectrin family.
Tissue Specificity
Isoform 2 is present in brain, lung and kidney (at protein level).
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cytoplasm
- Myofibril
- Sarcomere
- M line
- Cytoplasm
- Cytosol
- Cell membrane
- Colocalizes with ANK2 in a distinct intracellular compartment of neonatal cardiomyocytes.
- Isoform 2
- Cell membrane
- Peripheral membrane protein
- Cytoplasmic side
Alternative names
SPTB2, SPTBN1, Beta-II spectrin, Fodrin beta chain