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FLASH GENE

Symbol

CBLB

contributors: mct - updated : 24-06-2015

HGNC name	Cas-Br-M (murine) ecotropic retroviral transforming sequence b
HGNC id	1542

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         increases sepsis-induced release of inflammatory cytokines and chemokines constitutional       loss of function renders T cells hyperresponsive to antigenic stimulation and predisposes individuals toward developing autoimmunity

Susceptibility

to autoimmune diseases to type 1 diabetes in Japanese to multiple sclerosis

Variant & Polymorphism SNP , other	missense mutations of CBLB in Japanese subjects with type 1 diabetes
	T allele of rs9657904 within the CBLB gene significantly associated with multiple sclerosis (MS)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology autoimmune   modulation of the E3 ligase activity of CBLB might be a novel modality to control T cell immunity in vaccination, cancer biology, or autoimmunity

ANIMAL & CELL MODELS

Cblb(-/-) mice are osteopenic, because of increased bone resorption with little compensating increase in bone formation