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FLASH GENE

Symbol

FMR1

contributors: shn/ - updated : 26-09-2018

HGNC name	fragile X mental retardation 1
HGNC id	3775

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FRAXA , FXTAS , FXPOF

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         reduced FMRP negatively correlated with repeat number constitutional       loss of function leads to reduced Wnt signaling, which could be responsible for altered aNPC differentiation tumoral     --over   is associated with metastasis of breast cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed mental retardation fragile X   defective adult neurogenesis may contribute to the learning impairment and these learning deficits can be rectified by delayed restoration of FMR1 specifically in neural stem and progenitor cells

ANIMAL & CELL MODELS

	In neurons from Fmr1 KO mice mRNAs were deficient in glutamatergic signaling-induced dendritic localization and single mRNA particle dynamics in live neurons revealed diminished kinesis
	Mouse KO brain showed reduced kinesin-associated mRNAs
	Fmrp-null mice show reduced adult hippocampal neurogenesis
	Fmr1-/- mice showed elevated response thresholds to both click and tone stimuli
	dysregulation of Fmrp-Grm5 signaling pathway, accompanied with a downregulation of Gabrb3 expression, may contribute to the 'autistic-like' features observed in En2 mice
	Fmr1 KO mice have decreased proinflammatory cytokine hippocampal mRNA expression, specifically interleukin (Il6 and tumor necrosis factor (Tnf), compared with wild-type mice