NEFL gene

neurofilament light

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]

From UniProt:

Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Charcot-Marie-Tooth disease type 2E
  • Charcot-Marie-Tooth disease, demyelinating, type 1f
  • CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G

From UniProt:

Charcot-Marie-Tooth disease 2E (CMT2E): A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. [MIM:607684]

Charcot-Marie-Tooth disease 1F (CMT1F): A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years). [MIM:607734]

Cytogenetic Location: 8p21.2, which is the short (p) arm of chromosome 8 at position 21.2

Molecular Location: base pairs 24,950,955 to 24,956,869 on chromosome 8 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 8p21.2, which is the short (p) arm of chromosome 8 at position 21.2
  • CMT1F
  • CMT2E
  • CMTDIG
  • NF-L
  • NF68
  • NFL
  • PPP1R110