Summary

Gene Name	NEFH
Specie	Homo sapiens
Full Name	neurofilament heavy chain
Also known as	CMT2CC|NFH
Coordinate	chr22:29480218-29491390
Strand	+
Gene summary	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. [provided by RefSeq, Oct 2008]

Retrocopy(s) from NEFH

Retroname	Coord	Strand	Genomic Region	ENSG
NEFHP1	chr1:116739413-116742559	-	Intergenic	ENSG00000223489	UCSC
NEFHP2	chr20:41996539-41999433	-	Intergenic	ENSG00000223651	UCSC

Expression

Transcript Sequences

>NM_021076.4

GCAGTGCCTCCCGCCCCGTCCCGGCCTCGCGCACCTGCTCAGGCCATGATGAGCTTCGGCGGCGCGGACGCGCTGCTGGGCGCCCCGTTCGCGCCGCTGCATGGCGGCGGCAGCCTCCACTACGCGCTAGCCCGAAAGGGTGGCGCAGGCGGGACGCGCTCCGCCGCTGGCTCCTCCAGCGGCTTCCACTCGTGGACACGGACGTCCGTGAGCTCCGTGTCCGCCTCGCCCAGCCGCTTCCGTGGCGCAGGCGCCGCCTCAAGCACCGACTCGCTGGACACGCTGAGCAACGGGCCGGAGGGCTGCATGGTGGCGGTGGCCACCTCACGCAGTGAGAAGGAGCAGCTGCAGGCGCTGAACGACCGCTTCGCCGGGTACATCGACAAGGTGCGGCAGCTGGAGGCGCACAACCGCAGCCTGGAGGGCGAGGCTGCGGCGCTGCGGCAGCAGCAGGCGGGCCGCTCCGCTATGGGCGAGCTGTACGAGCGCGAGGTCCGCGAGATGCGCGGCGCGGTGCTGCGCCTGGGCGCGGCGCGCGGTCAGCTACGCCTGGAGCAGGAGCACCTGCTCGAGGACATCGCGCACGTGCGCCAGCGCCTAGACGACGAGGCCCGGCAGCGAGAGGAGGCCGAGGCGGCGGCCCGCGCGCTGGCGCGCTTCGCGCAGGAGGCCGAGGCGGCGCGCGTGGACCTGCAGAAGAAGGCGCAGGCGCTGCAGGAGGAGTGCGGCTACCTGCGGCGCCACCACCAGGAAGAGGTGGGCGAGCTGCTCGGCCAGATCCAGggctccggcgccgcgcaggcgcagatgcaggccgagacgcgcgacgccctgaagtgcgacgtgacgtcggcgctgcgcgaGATTCGCGCGCAGCTTGAAGGCCACGCGGTGCAGAGCACGCTGCAGTCCGAGGAGTGGTTCCGAGTGAGGCTGGACCGACTGTCGGAGGCAGCCAAGGTGAACACAGACGCTATGCGCTCAGCGCAGGAGGAGATAACTGAGTACCGGCGTCAGCTGCAGGCCAGGACCACAGAGCTGGAGGCACTGAAAAGCACCAAGGACTCACTGGAGAGGCAGCGCTCTGAGCTGGAGGACCGTCATCAGGCCGACATTGCCTCCTACCAGGAAGCCATTCAGCAGCTGGACGCTGAGCTGAGGAACACCAAGTGGGAGATGGCCGCCCAGCTGCGAGAATACCAGGACCTGCTCAATGTCAAGATGGCTCTGGATATAGAGATAGCCGCTTACAGAAAACTCCTGGAAGGTGAAGAGTGTCGGATTGGCTTTGGCCCAATTCCTTTCTCGCTTCCAGAAGGACTCCCCAAAATTCCCTCTGTGTCCACTCACATAAAGGTGAAAAGCGAAGAGAAGATCAAAGTGGTGGAGAAGTCTGAGAAAGAAACTGTGATTGTGGAGGAACAGACAGAGGAGACCCaagtgactgaagaagtgactgaagaagaggagaaagaggccaaagaggaggagggcaaggaggaagaagggggtgaagaagaggaggcagaagggggagaagaagaaACAAAGTCTCCCCCAGCAGAAGAGGCTGCATCCCCAGAGAAGGAAGCCAAGTCACCAGTAAAGGAAGAGGCAAAGTCACCGGCTGAGGCCAAGTCCCCAGAGAAGGAGGAAGCAAAATCCCCAGCCGAAGTCAAGTCCCCTGAGAAGGCCAAGTCTCCAGCAAAGGAAGAGGCAAAGTCACCGCCTGAGGCCAAGTCCCCAGAGAAGGAGGAAGCAAAATCTCCAGCTGAGGTCAAGTCCCCCGAGAAGGCCAAGTCCCCAGCAAAGGAAGAGGCAAAGTCACCGGCTGAGGCCAAGTCTCCAGAGAAGGCCAAGtccccagtgaaggaagaagcaaagtcaccggctgagGCCAAGTCCCCAGTGAAGGAAGAAGCAAAATCTCCAGCTGAGGTCAAGTCCCCGGAAAAGGCCAAGTCTCCAACGAAGGAGGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGACCCCCGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCTAAGTCCCCAGAGAAGGCCAAGTCCCCAGAGAAGGCCAAGACTCTTGATGTGAAGTCTCCAGAAGCCAAGACTCCAGCGAAGGAGGAAGCAAGGTCCCCTGCAGACAAATTCCCTGAAAAGGCCAAAAGCCCTGTCAAGGAGGAGGTCAAGTCCCCAGAGAAGGCGAAATCTCCCCTGAAGGAGGATGCCAAGGCCCCTGAGAAGGAGATCCCAAAAAAGGAAGAGGTGAAGTCCCCAGTGAAGGAGGAGGAGAAGCCCCAGGAGGTGAAAGTCAAAGAGCCCCCAAAGAAGGCAGAGGAAGAGAAAGCCCCTGCCACACCAAAAACAGAGGAGAAGAAGGACAGCAAGAAAGAGGAGGCACCCAAGAAGGAGGCTCCAAAGCCCAAGGTGGAGGAGAAGAAGGAACCTGCTGTCGAAAAGCCCAAAGAATCCAAAGTTGAAGCCAAGAAGGAAGAGGCTGAAGATAAGAAAAAAGTCCCCACCCCAGAGAAGGAGGCTCCTGCCAAGGTGGAGGTGAAGGAAGACGCTAAACCCAAAGAAAAGACAGAGGTAGCCAAGAAGGAACCAGATGATGCCAAGGCCAAGGAACCCAGCAAACCAGCAGAGAAGAAGGAGGCAGCACCGGAGAAAAAAGACACCAAGGAGGAGAAGGCCAAGAAGCCTGAGGAGAAACCCAAGACAGAGGCCAAAGCCAAGGAAGATGACAAGACCCTCTCAAAAGAGCCTAGCAAGCCTAAGGCAGAAAAGGCTGAAAAATCCTCCAGCACAGACCAAAAAGACAGCAAGCCTCCAGAGAAGGCCACAGAAGACAAGGCCGCCAAGGGGAAGTAAGGCAGGGAGAAAGGAACATCCGGAACAGCCAAAGAAACTCAGAAGAGTCCCGGAGCTCAAGGATCAGAGTAACACAATTTTCACTTTTTCTGTCTTTATGTAAGAAGAAACTGCTTAGATGACGGGGCCTCCTTCTTCAAACAGGAATTTCTGTTAGCAATATGTTAGCAAGAGAGGGCACTCCCAGGCCCCTGCCCCCAGGCCCTCCCCAGGCGATGGACAATTATGATAGCTTATGTAGCTGAATGTGATACATGCCGAATGCCACACGTAAACACTTGACTATAAAAACTGCCCCCCTCCTTTCCAAATAAGTGCATTTATTGCCTCTATGTGCAACTGACAGATGACCGCAATAATGAATGAGCAGTTAGAAATACATTATGCTTGAGATGTCTTAACCTATTCCCAAATGCCTTCTGTTTTCCAAAGGAGTGGTCAAGCCCTTGCCCAGAGCTCTCTATTCTGGAAGAGCGGTCCAGGTGGGGCCGGGGACTGGCCACTGAATTATGCCAGGGCGCACTTTCCACTGGAGTTCACTTTCAATTGCTTCTGTGCAATAAAACCAAGTGCTTATAAAATGAAAATGTTGCTGCTGTTATTCTCTTTCCCTGGGAAGGCTGGGGGCAGGGCAGGGGAGGTCTGGATGTGACACCCCAGACTGCATGGGACTGAGCAAGCATCAGT

>XM_011530200.2

TCCCGCCCCGTCCCGGCCTCGCGCACCTGCTCAGGCCATGATGAGCTTCGGCGGCGCGGACGCGCTGCTGGGCGCCCCGTTCGCGCCGCTGCATGGCGGCGGCAGCCTCCACTACGCGCTAGCCCGAAAGGGTGGCGCAGGCGGGACGCGCTCCGCCGCTGGCTCCTCCAGCGGCTTCCACTCGTGGACACGGACGTCCGTGAGCTCCGTGTCCGCCTCGCCCAGCCGCTTCCGTGGCGCAGGCGCCGCCTCAAGCACCGACTCGCTGGACACGCTGAGCAACGGGCCGGAGGGCTGCATGGTGGCGGTGGCCACCTCACGCAGTGAGAAGGAGCAGCTGCAGGCGCTGAACGACCGCTTCGCCGGGTACATCGACAAGGTGCGGCAGCTGGAGGCGCACAACCGCAGCCTGGAGGGCGAGGCTGCGGCGCTGCGGCAGCAGCAGGCGGGCCGCTCCGCTATGGGCGAGCTGTACGAGCGCGAGGTCCGCGAGATGCGCGGCGCGGTGCTGCGCCTGGGCGCGGCGCGCGGTCAGCTACGCCTGGAGCAGGAGCACCTGCTCGAGGACATCGCGCACGTGCGCCAGCGCCTAGACGACGAGGCCCGGCAGCGAGAGGAGGCCGAGGCGGCGGCCCGCGCGCTGGCGCGCTTCGCGCAGGAGGCCGAGGCGGCGCGCGTGGACCTGCAGAAGAAGGCGCAGGCGCTGCAGGAGGAGTGCGGCTACCTGCGGCGCCACCACCAGGAAGAGGTGGGCGAGCTGCTCGGCCAGATCCAGggctccggcgccgcgcaggcgcagatgcaggccgagacgcgcgacgccctgaagtgcgacgtgacgtcggcgctgcgcgaGATTCGCGCGCAGCTTGAAGGCCACGCGGTGCAGAGCACGCTGCAGTCCGAGGAGTGGTTCCGAGTGAGGCTGGACCGACTGTCGGAGGCAGCCAAGGTGAACACAGACGCTATGCGCTCAGCGCAGGAGGAGATAACTGAGTACCGGCGTCAGCTGCAGGCCAGGACCACAGAGCTGGAGGCACTGAAAAGCACCAAGGACTCACTGGAGAGGCAGCGCTCTGAGCTGGAGGACCGTCATCAGGCCGACATTGCCTCCTACCAGGAAGCCATTCAGCAGCTGGACGCTGAGCTGAGGAACACCAAGTGGGAGATGGCCGCCCAGCTGCGAGAATACCAGGACCTGCTCAATGTCAAGATGGCTCTGGATATAGAGATAGCCGCTTACAGAAAACTCCTGGAAGGTGAAGAGTGTCGGATTGGCTTTGGCCCAATTCCTTTCTCGCTTCCAGAAGGACTCCCCAAAATTCCCTCTGTGTCCACTCACATAAAGGTGAAAAGCGAAGAGAAGATCAAAGTGGTGGAGAAGTCTGAGAAAGAAACTGTGATTGTGGAGGAACAGACAGAGGAGACCCaagtgactgaagaagtgactgaagaagaggagaaagaggccaaagaggaggagggcaaggaggaagaagggggtgaagaagaggaggcagaagggggagaagaagaaACAAAGTCTCCCCCAGCAGAAGAGGCTGCATCCCCAGAGAAGGAAGCCAAGTCACCAGTAAAGGAAGAGGCAAAGTCACCGGCTGAGGCCAAGTCCCCAGAGAAGGAGGAAGCAAAATCCCCAGCCGAAGTCAAGTCCCCTGAGAAGGCCAAGTCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGACCCCCGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCTAAGTCCCCAGAGAAGGCCAAGTCCCCAGAGAAGGCCAAGACTCTTGATGTGAAGTCTCCAGAAGCCAAGACTCCAGCGAAGGAGGAAGCAAGGTCCCCTGCAGACAAATTCCCTGAAAAGGCCAAAAGCCCTGTCAAGGAGGAGGTCAAGTCCCCAGAGAAGGCGAAATCTCCCCTGAAGGAGGATGCCAAGGCCCCTGAGAAGGAGATCCCAAAAAAGGAAGAGGTGAAGTCCCCAGTGAAGGAGGAGGAGAAGCCCCAGGAGGTGAAAGTCAAAGAGCCCCCAAAGAAGGCAGAGGAAGAGAAAGCCCCTGCCACACCAAAAACAGAGGAGAAGAAGGACAGCAAGAAAGAGGAGGCACCCAAGAAGGAGGCTCCAAAGCCCAAGGTGGAGGAGAAGAAGGAACCTGCTGTCGAAAAGCCCAAAGAATCCAAAGTTGAAGCCAAGAAGGAAGAGGCTGAAGATAAGAAAAAAGTCCCCACCCCAGAGAAGGAGGCTCCTGCCAAGGTGGAGGTGAAGGAAGACGCTAAACCCAAAGAAAAGACAGAGGTAGCCAAGAAGGAACCAGATGATGCCAAGGCCAAGGAACCCAGCAAACCAGCAGAGAAGAAGGAGGCAGCACCGGAGAAAAAAGACACCAAGGAGGAGAAGGCCAAGAAGCCTGAGGAGAAACCCAAGACAGAGGCCAAAGCCAAGGAAGATGACAAGACCCTCTCAAAAGAGCCTAGCAAGCCTAAGGCAGAAAAGGCTGAAAAATCCTCCAGCACAGACCAAAAAGACAGCAAGCCTCCAGAGAAGGCCACAGAAGACAAGGCCGCCAAGGGGAAGTAAGGCAGGGAGAAAGGAACATCCGGAACAGCCAAAGAAACTCAGAAGAGTCCCGGAGCTCAAGGATCAGAGTAACACAATTTTCACTTTTTCTGTCTTTATGTAAGAAGAAACTGCTTAGATGACGGGGCCTCCTTCTTCAAACAGGAATTTCTGTTAGCAATATGTTAGCAAGAGAGGGCACTCCCAGGCCCCTGCCCCCAGGCCCTCCCCAGGCGATGGACAATTATGATAGCTTATGTAGCTGAATGTGATACATGCCGAATGCCACACGTAAACACTTGACTATAAAAACTGCCCCCCTCCTTTCCAAATAAGTGCATTTATTGCCTCTATGTGCAACTGACAGATGACCGCAATAATGAATGAGCAGTTAGAAATACATTATGCTTGAGATGTCTTAACCTATTCCCAAATGCCTTCTGTTTTCCAAAGGAGTGGTCAAGCCCTTGCCCAGAGCTCTCTATTCTGGAAGAGCGGTCCAGGTGGGGCCGGGGACTGGCCACTGAATTATGCCAGGGCGCACTTTCCACTGGAGTTCACTTTCAATTGCTTCTGTGCAATAAAACCAAGTGCTTATAAAATGAAAA