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	HGNC	UniGene	Nucleotide	OMIM	UCSC

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FLASH GENE

Symbol

XBP1

contributors: mct - updated : 06-09-2018

HGNC name	X-box binding protein 1
HGNC id	12801

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 tumoral       loss of function in prostate cancer in progression tumoral     --over   in primary colorectal carcinomas and in colorectal adenomas constitutional     --over   increased XBP1 expression may contribute to a reduction of oxidative stress and prevention of aging constitutional     --low   led to augmented expression of FOXO1, a key transcription factor regulating autophagy in neurons

Susceptibility

to bipolar disorder to inflammatory bowel disease

Variant & Polymorphism other	C116G increases the risk of bipolar disorder
	variants increasing the risk of inflammatory bowel disease

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative alzheimer potential of XBP1 as targets for Alzheimer disease therapeutics diabete type 2   potential new therapeutic approach for the treatment of type 2 diabetes immunology autoimmune   is a potential novel therapeutic target in IFNA1-driven autoimmune and inflammatory diseases

ANIMAL & CELL MODELS

	mutant SOD1 transgenic mice with specific deletion of XBP-1 in the nervous system were more resistant to developing disease, correlating with increased levels of autophagy in motoneurons and reduced accumulation of mutant SOD1 aggregates in the spinal cord
	Xbp1-deficient mice were more resistant to developing disease features, associated with improved neuronal survival and motor performance, and a drastic decrease in mHtt levels