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FLASH GENE

Symbol

ROCK1

contributors: mct/pgu - updated : 21-05-2018

HGNC name	Rho-associated, coiled-coil containing protein kinase 1
HGNC id	10251

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       loss of function causes whole body insulin resistance by impairing insulin signaling in skeletal muscle, suggesting that activation of ROCK1 is essential for the normal actions of insulin on glucose transport in skeletal muscle tumoral somatic mutation     gain of function three somatic mutations leading to elevated kinase activity and driving actin cytoskeleton rearrangements that promote increased motility and decreased adhesion (characteristics of cancer progression) tumoral     --over   in various tumor cell lines and tumor tissues from osteosarcoma patients

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive breast potential target in breast cancer immunology inflammatory   may represent a promising therapeutic target in vascular inflammatory diseases cancer bone   may be a promising therapeutic target for the treatment of osteosarcoma patients. neuromuscular spinal muscular atrophy   therapeutic potential of ROCK1 inhibition in SMA neurology neurodegenerative huntington chorea A signaling pathway from ROCK1 to profilin thus controls polyglutamine protein aggregation and is targeted by a promising therapeutic lead for HD

ANIMAL & CELL MODELS

ROCK1-deficient mice exhibited insulin resistance, as revealed by the failure of blood glucose levels to decrease after insulin injection