NEFH

(redirected from NF-H)
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NEFH

A gene on chromosome 22q12.2 that encodes the heavy neurofilament protein that comprises the axoskeleton, functionally maintains neuronal caliber, and may play a role in intracellular transport to axons and dendrites; it is commonly used as a biomarker of neuronal damage.

Molecular pathology
NEFH mutations have been associated with increased susceptibility to amyotrophic lateral sclerosis (Lou Gehrig disease).
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Decreased immunoreactivity to SMI 31 antibody and faint or absent NF-H and NF-M protein bands in both viable and heat killed M.
cyclin dependent kinases (CDKs) and mitogen activated protein kinase (MAP kinase) that phosphorylate serine residues on the KSP repeats present on the carboxy terminal region of NF-H and NF-M.
Restoration of NF-H and N-M phosphorylation by 12 months post inoculation in heat killed M.
Hypophosphorylation of NF-H and NF-M components in sciatic nerves of mice infected in the FP with M.
To conclude, the results obtained in mouse model for leprous neuropathy indicate the biochemical alterations in the NF, viz., hypophosphorylation of NF-H and NF-M.