Disease-gene associations mined from literature

Literature associating S100B and Alexander disease

S100B [ENSP00000291700]

Protein S100-B; Weakly binds calcium but binds zinc very tightly-distinct binding sites with different affinities exist for both ions on each monomer. Physiological concentrations of potassium ion antagonize the binding of both divalent cations, especially affecting high-affinity calcium-binding sites. Binds to and initiates the activation of STK38 by releasing autoinhibitory intramolecular interactions within the kinase. Interaction with AGER after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling. Could assist ATAD3A cytoplasmic processing, preventing aggregation and favoring mitochondrial localization. May mediate calcium-dependent regulation on many physiological processes by interacting with other proteins, such as TPR-containing proteins, and modulating their activity; Belongs to the S-100 family.

Synonyms:  S100B,  S100Bp,  hS100B,  A0A0S2Z4C5,  A8MRB1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM