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FLASH GENE

Symbol

NEFH

contributors: npt/mct - updated : 14-04-2016

HGNC name	neurofilament, heavy polypeptide 200kDa
HGNC id	7737

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMT2CC

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     of the tail primarily involved in uncommon forms of amyotrophic lateral sclerosis constitutional   deletion     of neurofilament heavy reduced axonal diameters and neurofilament number in proximal nerve segments

Susceptibility

to amyotrophic lateral sclerosis

Variant & Polymorphism	SS genotype risk factor for sporadic amyotrophic lateral sclerosis

Candidate gene
Marker	detection of NEFH may be useful in determining which individuals require CT imaging to assess the severity of their brain injury
	in ALS, increased NEFH concentration in plasma, serum and CSF appears to be associated with faster disease progression
Therapy target

ANIMAL & CELL MODELS

mice lacking the Nefh gene (Rao,98); Nefh knockout mice (Elder,98)