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FLASH GENE
Symbol RAC1 contributors: mct/shn - updated : 22-05-2017
HGNC name ras-related C3 botulinum toxin substrate 1 (Rho family, small GTP binding protein Rac1)
HGNC id 9801
ASSOCIATED DISORDERS
corresponding disease(s) MCACCH
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
SystemTypeDisorderPubmed
miscelleaneous  
therapeutic target for chronic kidney disease
cardiovascularcardiomyopathy 
therapies which target myocardial RAC1 may be beneficial in the treatment of cardiac hypertrophy
cancerskin 
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