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FLASH GENE

Symbol

RAC1

contributors: mct/shn - updated : 22-05-2018

HGNC name	ras-related C3 botulinum toxin substrate 1 (Rho family, small GTP binding protein Rac1)
HGNC id	9801

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MCACCH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in colorectal cancer tumoral     --over   in primary acute myeloid leukemia cells as compared to normal bone marrow mononuclear cells tumoral somatic mutation       in melanoma

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous     therapeutic target for chronic kidney disease cardiovascular cardiomyopathy   therapies which target myocardial RAC1 may be beneficial in the treatment of cardiac hypertrophy cancer skin   pharmacological inhibition of downstream effectors of RAC1 signaling could be of therapeutic benefit

ANIMAL & CELL MODELS

	deletion of both Rac1 and Rac2 murine alleles leads to a massive egress of hematopoietic stem/progenitor cells (HSC/Ps) into the blood from the marrow
	mice with specific Rac1 deficiency in the B cell lineage display a completely blocked development of B cell
	deletion of Rac1 in adult mouse epidermis stimulated stem cells to divide and undergo terminal differentiation, leading to failure to maintain the interfollicular epidermis, hair follicles, and sebaceous glands
	temporally and specifically deleted Rac1 gene in adult mouse cardiomyocytes leads to decreased gp91(phox) and p67(phox) interaction, NADPH oxidase activity, and myocardial oxidative stress in response to angiotensin II stimulation
	amount of Rac1 associating with beta4 integrin and the activity of both Rac1 and cofilin are significantly lower in BPAG1e-deficient keratinocyte cells