H-RasK117R mutant: Difference between revisions
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==H-RasK117R mutant ([[2quz]]) in Costello Syndrome== | ==H-RasK117R mutant ([[2quz]]) in Costello Syndrome== | ||
(see also [[HRAS p21]]) | (see also [[HRAS p21]])<br /> | ||
HRAS is a protein involved in the regulating cell division after a stimulation about growth factor. This protein belongs to a subfamily called Ras. | HRAS is a protein involved in the regulating cell division after a stimulation about growth factor. This protein belongs to a subfamily called Ras. | ||
This protein is an enzyme which is mutated in a genetic disease called Costello syndrome and in cancers like bladder cancer. 85 to 90% of patients have got mutations in glycine 12 and 13. The mutations of HRAS Lys117Arg was detected in very few patients. They pronounce less palmar and plantar creases and present autistic behaviour. But they have similar features than other patients. | This protein is an enzyme which is mutated in a genetic disease called Costello syndrome and in cancers like bladder cancer. 85 to 90% of patients have got mutations in glycine 12 and 13. The mutations of HRAS Lys117Arg was detected in very few patients. They pronounce less palmar and plantar creases and present autistic behaviour. But they have similar features than other patients. | ||