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FLASH GENE

Symbol

NF1

contributors: mct - updated : 30-08-2016

HGNC name	neurofibromin 1
HGNC id	7765

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

NF1 , NFNS , WATS , NFFS , NF1DEL

related resource

Neurofibromatosis Type I

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in NF1 tumor and juvenile myelomonocytic leukemia, in malignant peripheral nerve SHEAT tumors (MPNSTS) (early onset, poor prognosis), in melanoma desmoplastic ,neurotropic tumoral       loss of function in neurofibroma constitutional     --low   results in increased Ras activity and downstream MAPK/Akt signaling tumoral     --low   with ZNF423, in neuroblastomas with poor outcome tumoral somatic mutation       in gastrointestinal stromal tumors (GISTs) tumoral somatic mutation       in Desmoplastic Melanoma

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed mental retardation other   decrease GABA-mediated inhibition will be useful for treatment of the learning deficits associated with NF1 cancer brain glioma/neuroblstoma inhibition of MAP2K1 signaling downstream of NF1 restores responsiveness to Retinoic acid (RA), suggesting a therapeutic strategy to overcome RA resistance in NF1-deficient neuroblastomas osteoarticular bone   inhibiting MTOR may represent a viable strategy to treat NF1 bone diseases

ANIMAL & CELL MODELS

mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I