neurofilament heavy polypeptide; NF-H; neurofilament triplet H protein; 200 kD neurofilament protein (NEFH, KIAA0845, NFH)

Function

• heavy chain of neurofilaments
• function in mature axons that is not subserved by the two smaller neurofilament proteins
• phosphorylation results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber
• phosphorylation seems to play a major role in functioning of the larger neurofilament polypeptides (NF-M & NF-H), the levels of phosphorylation are altered developmentally & coincident with a change in the neurofilament function
• can form neurofilaments in association with neurofilament L.
• phosphorylated in C-terminal domain

Structure

• belongs to the intermediate filament family
• there are a number of repeats of the tripeptide K-S-P; phosphorylated on a number of the Ser in this motif

Alternative splicing

named isoforms=2

Pathology

• defects in NEFH are a cause of susceptibility to amyotrophic lateral sclerosis (ALS)

Polymorphism

• the number of repeats is shown to vary between 29-30

Laboratory

• neurofilament heavy chain Ab in CSF

More general terms

• neurofilament protein

Database

• UniProt: http://www.uniprot.org/uniprot/P12036.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4744
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4744
• OMIM: https://mirror.omim.org/entry/105400
• OMIM: https://mirror.omim.org/entry/162230