SPTBN4
Involvement in disease
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
NEDHND
An autosomal recessive disorder characterized by congenital myopathy with hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem-evoked potentials, and a combined axonal and demyelinating motor neuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the spectrin family.
Tissue Specificity
Expressed in skeletal muscle at the sarcolemma and in the muscle capillaries (at protein level) (PubMed:28540413). Abundantly expressed in brain and pancreatic islets (PubMed:11086001).
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cytoplasm
- Cell cortex
Alternative names
KIAA1642, SPTBN3, SPTBN4, Beta-IV spectrin