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FLASH GENE

Symbol

RBP3

contributors: shn/npt - updated : 21-12-2009

HGNC name	retinol binding protein 3, interstitial
HGNC id	9921

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

RP66

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function           -

Susceptibility

uveitis

Variant & Polymorphism	the mutation Asp1080Asn is associated with autosomal recessive retinitis pigmentosa (den Hollander 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Irbp-/- mice exhibit a significant loss of photorecetors and profound changes in the structure and organization of the outer segments. ERG show a marked reduction of cone and rod-mediated response amplitudes (Liou 1998)