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FLASH GENE
Symbol NTRK1 contributors: mct/ - updated : 11-10-2015
HGNC name neurotrophic tyrosine kinase, receptor, type 1
HGNC id 8031
ASSOCIATED DISORDERS
corresponding disease(s) HSAN4
related resource Mutation Database of Inherited Peripheral Neuropathies
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in association with EPHB6, EFNB2, EFNB3 in low grade neuroblastoma
tumoral   deletion    
in thyroid tumor
tumoral fusion      
chimeric protein of fusion between NTRK1 and one among tropomyosin, TRP or TAG in thyroid tumor
constitutional        
total absence of the expression in keratoconus (repression by Sp3 transcription factor)
tumoral     --over  
enhances the tumorigenic properties of breast cancer cells
constitutional     --low  
levels of both NGF protein in seminal plasma and NTRK1 mRNA in spermatozoa are low in samples from oligoasthenozoospermic men
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancerhemopathy 
potential target for therapeutic in t(8;21) positive leukemia
ANIMAL & CELL MODELS