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NF1

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.
Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, RAS pathway related proteins

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Oligodendrocyte precursor cells, Inhibitory neurons, Excitatory neurons, Oligodendrocytes, Astrocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Interacts with HTR6 (PubMed:23027611).

Molecular function

GTPase activation

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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