NEFM
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 medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| neurofilament medium | MIM:162250 | Ensembl:ENSG00000104722 | HGNC:HGNC:7734 | PA162397442 | 8p21.2 |
GO terms in NEFM
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0005200 | structural constituent of cytoskeleton |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0008017 | microtubule binding |
| BP | TAS | GO:0033693 | neurofilament bundle assembly |
| BP | IEA | GO:0061564 | axon development |
| CC | IEA | GO:0005883 | neurofilament |
| CC | TAS | GO:0030424 | axon |
| CC | IDA | GO:0045111 | intermediate filament cytoskeleton |
| CC | IDA | GO:0097418 | neurofibrillary tangle |
Gene expression in normal tissue: NEFM
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NEFM
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2447 | Amyotrophic lateral sclerosis (ALS) |
| wikipathways | WP3680 | Association Between Physico-Chemical Features and Toxicity Associated Pathways |
| kegg | hsa05014 | Amyotrophic lateral sclerosis (ALS) - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NEFM
CLASSFICATION
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