Gene: [22q1/NEFH] neurofilament, heavy polypeptide (200kD);


[1] The gene length is 12 kb. Exons: 4; comparing to L and M peptide genes, the NEFH contains an additional intron in the 5'-part (three introns in total). As a result, exon 3 of the NEFH gene is homologous to exon 2 of the NEFM gene.
[2] The processed trancript is 3.9 kb; the polypeptide comprises 1020 amino acid residues. The MM of the mature protein is 110-114 kD, depending on the extent of phosphorylation (earlier estimations of MM= 200-220 kD are accounted for by anomalous migration in gel)."


The neurofilament heavy polypeptide is assigned to the multigene family of intermediate filament proteins. These are keratins (see FAM:KRT/00.0), expressed predominantly in epithelial cells; vimentin (GEM:10p13/VIM), expressed predominantly in mesenchimal cells; desmin (GEM:02q35/DES), expressed in muscle cells; glial filament protein, expressed in astrocytes; and neurofilament H peptide (this gene), expressed in neurons. Also known are M peptide (the gene is cloned but not mapped yet; GEM:00.0/NEF3; see also GEM:00.0/NEF4 and GEM:00.0/NEF5) and L peptide (GEM:08p21/NEFL). Three NEF-like genes are also mapped: GEM:01p12/NEFHL, GEM:02^/NEFLL1 and GEM:07q3/NEFLL2."


CLO,GEN,SEQ,MOP,EVO "Lees JF &: EMBO J, 7, N7, 1947-1955, 1988
CLO,RAT,EVO,LOC,HUM "Lieberburg I &: PNAS, 86, 2463-2467, 1989
LOC,MOL "Mattei MG &: Hum Genet, 80, 293-295, 1988


neu, cysk


coding, basic


22 q12.1-13.1


MIM: 162230

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