免 疫 原：KLH conjugated synthetic peptide derived from human Neurofibromin 1
抗原表位：2701-2839/2839
SWISS：P21359
Gene ID ：4763
Human Gene ID：4763

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008].
Function：Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.
DISEASE：Neurofibromatosis 1 (NF1) [MIM:162200]: A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increa
Similarity：Contains 1 CRAL-TRIO domain.
Contains 1 Ras-GAP domain.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.