S100B

Chr 21

S100 calcium binding protein B

Also known as: NEF, S100, S100-B, S100beta

NCBI Gene: 6285 ENSG00000160307 UniProt: P04271

S100B encodes a small calcium- and zinc-binding protein highly expressed in astrocytes that acts as a neurotrophic factor promoting astrocytosis and axonal proliferation. Mutations cause autosomal dominant epileptic encephalopathy with variable age of onset, primarily affecting the central nervous system. The gene shows low constraint to loss-of-function variation (pLI 0.04, LOEUF 1.73), and comprehensive clinical information is available in GeneReviews.

GeneReviews ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly. Chromosomal rearrangements and altered expression of this gene have been implicated in several neurological, neoplastic, and other types of diseases, including Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Active trials

463

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.73

LOEUF

Multiple*

Mechanism· predicted