QuickView for NEFH;jsessionid=5923282BE36FA799C67F536A65E7F28E (gene)

Gene Symbol:

NEFH Homo sapiens

Full name:

neurofilament heavy

Synonyms:

CMT2CC, NFH, neurofilament heavy polypeptide, 200 kDa neurofilament protein, NF-H, neurofilament triplet H protein, neurofilament, heavy polypeptide 200kDa

Genomic Location:

Chr 22: 28206219-28217279

Description:

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used...

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Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

AP1_C ,  TGANTCA_AP1_C ,  GCANCTGNY_MYOD_Q6 ,  AP1_Q6 ,  NRSF_01 ,  GGGAGGRR_MAZ_Q6 ,  TATAAA_TATA_01 ,  CAGGTG_E12_Q6 ,  CAGNWMCNNNGAC_UNKNOWN ,  GGGCGGR_SP1_Q6 ,  AP1_Q4 ,  TATA_01 ,  AP1_Q2 ,  ER_Q6_02 ,  AP1_Q4_01 ,  TGASTMAGC_NFE2_01

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-25 ,  Predicted Gene Targets for miR-9

Cytogenetic Map:

22q12.2

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