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FLASH GENE

Symbol

OPHN1

contributors: mct - updated : 11-10-2017

HGNC name	oligophrenin 1
HGNC id	8148

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MRX60

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in colorectal tumor constitutional       loss of function causes X-linked intellectual disability with cerebellar hypoplasia and leads to hyperactivation of the rho kinase (ROCK1) pathway

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

platelets from Ophn1(-/-) mice showed enhanced susceptibility to platelet activation with alterations in actin distribution and early release of granules