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FLASH GENE

Symbol

S100B

contributors: mct - updated : 24-04-2016

HGNC name	S100 calcium binding protein B
HGNC id	10500

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         chromosomal rearrangements implicated in several neurological, neoplastic, Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes constitutional     --over   in the amnion of pre-eclamptic patients and patients with pre-eclampsia with IUGR tumoral     --over   found in malignant melanoma contribute to cancer progression by down-regulating TP53 activity tumoral     --over   in malignant melanoma and to a lesser extent in thyroid carcinoma and renal cell carcinoma constitutional     --over   associated with the severity of cardiac dysfunction, renal insufficiency (RI) and an adverse prognosis in chronic heart failure (CHF) patients constitutional     --over   early elevations (up to 3 days) of S100B and ENO2 secondary to severe traumatic brain injury, predict deterioration to brain death, but more prominently associated with ENO2 than S100B constitutional     --over   in patients with structural lesions resulting from mild traumatic brain injuries

Susceptibility

to bipolar affective disorder with psychosis (BPAD)

Variant & Polymorphism other	variants predisposing to a psychotic subtype of BPAD, possibly via alteration of gene expression
	rs3788266, a functional promoter variant in the S100B gene where the presence of the G allele promotes increased gene expression and is associated with increased serum levels of the protein, strogly associated with BPAD

Candidate gene	for dyslexia
	parameter of glial activation and/or death in several conditions of brain injury
Marker	S100A1 and S100B expression are marker to develop potency assays for cartilage regeneration cell therapies
	increased serum GFAP, S100B, ENO2 are associated with acute CO poisoning, and these biomarkers can be useful in assessing the clinical status of patients with CO poisoning
Therapy target

ANIMAL & CELL MODELS

mice deficient of both the S100a1 and S100b genes displayed normal skeletal growth from embryonic stage to adulthood