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FLASH GENE

Symbol

RORB

contributors: mct - updated : 09-05-2013

HGNC name	RAR-related orphan receptor B
HGNC id	10259

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL9Q21

Susceptibility

to pediatric bipolar disorder

Variant & Polymorphism SNP	four intronic RORB SNPs showed positive associations with the pediatric bipolar disorder

Candidate gene	RORB is a strong candidate for a neurological phenotype in del 9q21 patients
Marker
Therapy target

ANIMAL & CELL MODELS

	Rorb(-/-) mice lacking retinoid-related orphan nuclear receptor beta lose rods but overproduce primitive S cones that lack outer segments
	Rorbeta-deficient mice fail to induce S opsin appropriately during postnatal cone development
	Rorb-deficient mice lose expression of pancreas-specific transcription factor 1a (Ptf1a) but retain forkhead box n4 factor (Foxn4), two early-acting factors necessary for amacrine and horizontal cell generation 1