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FLASH GENE

Symbol

NEFM

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

HGNC name	neurofilament, medium polypeptide 150kDa
HGNC id	7734

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	5.33 kb     3 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 3 - 3271 102 916 - Ludemann (2005) variant 2 3 - 2514 - 540 - Ludemann (2005)

EXPRESSION

Type	restricted

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     Nervous brain diencephalon amygdala     Urinary kidney         Visual eye retina

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 O-glycosylated and synchronously regulated in axons of neurons and containing the repeated motif KSP(XKSPYK), 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 Nef3

Homologene

FAMILY

intermediate filament family, type IV

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION	involved in the maintenance of neuronal caliber
	involved in neurite outgrowth, early neuronal cell development, neuropeptide signaling/synthesis and neuronal receptor (Tondreau 2008)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

medium chain constituent of neurofilament

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to Parkinson disease

Variant & Polymorphism other	G336S variant increasing the risk of Parkinson disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS