Protein S100 is a low molecular weight (10-12 kD) calcium-binding protein the beta subunit of which is coded for at the 22.2-22.3 region of the long arm of chromosome 21. This region has also been shown to be responsible for the phenotypic expression of Down syndrome. Previous studies demonstrated i
S100 protein and down syndrome
β Scribed by Alexander Marks; Robert Allore
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 431 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0265-9247
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β¦ Synopsis
SlOO protein is a low molecular weight calcium-binding protein widely distributed in the central nervous system of vertebrates. Recent evidence suggests that SlOO protein may play a role in the regulation of glial proliferation and neuronal differentiation. The gene for SlOO protein has been mapped to the 21q22 region, a chromosomal locus whose duplication has been implicated in the generation of Down Syndrome (DS). This raises the possibility that abnormalities in SlOO protein gene dosage at a critical period during development may be responsible for some of the neurologic abnormalities associated with DS.
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