Jul 24, 2019
Spectrin beta, non-erythrocytic 1
The SPTBN1 gene codes for the beta subunit of the spectrin protein, which is important in cellular shape, protection of membranes again stress, positioning of transmembrane proteins, and molecular traffic. Spectrin is made up of four subunits; the beta subunits are responsible for most of the binding activity (Hayes et al., 2000).
The following de novo genetic change was identified in a UDN participant:
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