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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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021076 4 - 3721 NP_066554 - 1020 - 2013 23632043

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear inner cochlea   highly Nervous brain       highly   nerve       highly Reproductive male system prostate     highly Respiratory lung         Urinary kidney

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	globular head, a central coiled-coil rod region
	a C terminal globular tail containing 43 repeats KSP (XKSPYK) with two common polymorphic variants L large or S small, and C-terminal domains do not normally regulate neurofilament (NF) transport rates as previously proposed, but instead increase the proteolytic resistance of NF, thereby stabilizing the stationary neurofilament cytoskeleton along axons

mono polymer

polymer

HOMOLOGY

interspecies	homolog to murine Nefh
	homolog to C.elegans C02F12.7

Homologene

FAMILY

intermediate filament family, type IV

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytoskeleton,intermed filament
	intracellular,nucleus

basic FUNCTION	having an important function in mature axons
	playing a major role in the development of large diameter axons
	distal to proximal development of peripheral nerves requires the expression of neurofilament heavy

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

heavy polypeptide constituent of neurofilament

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

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)