Neurofilament, heavy polypeptide 200kDa pseudogene 1 (NEFHP1)

NEFH pseudogene 1 (NEFHP1) is a nonfunctional DNA sequence that closely resembles the NEFH gene, which encodes the neurofilament heavy chain protein. Unlike the functional NEFH gene, pseudogenes such as NEFHP1 do not produce a functional protein and are typically considered genomic ‘fossils’ formed by gene duplication or retrotransposition events[7]. NEFHP1 has no known biological or pharmacological function, is not considered a therapeutic target, and does not contribute directly to disease biology or therapy. It is not used as a biomarker, nor is it associated with drug interactions or safety considerations. While rare pseudogenes might have some regulatory RNA effects, there is no evidence or suggestion in the current literature that NEFHP1 plays any established role in neurobiology or disease, unlike its functional counterpart, NEFH, which is important in the structure of neuronal cytoskeleton and is involved in neurodegenerative disease when mutated[1][4][7]. NEFHP1 is not a protein, receptor, enzyme, or druggable target. Its function is limited to being a genomic pseudogene with no confirmed biological activity or clinical utility[4][7].

Other names

NEFH pseudogene 1NEFHLneurofilament heavy pseudogene 1neurofilament, heavy polypeptide-like pseudogeneneurofilament, heavy polypeptide pseudogene 1