![Spectrin beta chain, brain 1 is a protein that in humans is encoded by the SPTBN1 gene.[5]](https://images.squarespace-cdn.com/content/v1/6228f3c5ff71154fe0297940/b4a6d6cf-34c8-441f-b07e-677b544cc2af/Screenshot+2023-05-10+035932.png)
A Rare Genetic Disorder
SPTBN1 is a neurological genetic mutation of the SPTBN1 gene. The location of the mutation within the DNA sequence may indicate the severity of an individuals impairments.
SPTBN1 is still in its infancy stage and incredibly rare as it was only just discovered in 2019 and research was only first published in 2021. As of the summer of 2021 there were only 29 documented cases worldwide. However, since then many others have been diagnosed and been affected by SPTBN1.
Common Charateristics
Little is still known about SPTBN1, however, common traits seem to include, but not limited to:
- Clinical neurodevelopmental symptoms, including language and motor delays,
- Intellectual disability,
- Autistic features,
- Seizures,
- Behavioral and movement abnormalities,
- And variable dysmorphic facial features.
What are Spectrins?
Spectrins belong to the superfamily of proteins called F-actin cross linking proteins that function as scaffolding proteins for protein sorting, cell adhesion, and migration. They are principle components of a cell membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. They are actin binding proteins that serves as a membrane organizer and stabilizer. Spectrin beta II is a multifunctional protein that contains lipid-binding sites within its two calponin-homology domains (aa 82-186 and 201-306) and a pleckstrin homology domain (aa 2224-2334) and triple helical segments. Spectrin beta II is generally associated with the cytoplasmic surface of the membrane by attachment to ankyrin. (1)
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Research is needed
Due the rarity of the disease, research funding is limited.