Description
| Product Name: | Human NEFL Recombinant Protein |
| Product Code: | RPPB4083 |
| Size: | 10µg |
| Species: | Human |
| Target: | NEFL |
| Synonyms: | Neurofilament light polypeptide, NF-L, NEFL, NF68, NFL, 68 kDa neurofilament protein. |
| Source: | Escherichia Coli |
| Physical Appearance: | Filtered White lyophilized (freeze-dried) powder. |
| Formulation: | NEFL filtered (0.4 �m) and lyophilized from 0.5mg/ml solution in 15mM Tris and 85mM Glycine, pH 8.5. |
| Solubility: | It is recommended to add 200 �l of deionized waterto prepare a working stock solution of approximately 0.5mg/ml and let the lyophilized pellet dissolve completely. |
| Stability: | Store lyophilized protein at -20°C. Aliquot the product after reconstitution to avoid repeated freezing/thawing cycles. Reconstituted protein can be stored at 4°C for a limited period of time; it does not show any change after two weeks at 4°C. |
| Purity: | Greater than 90.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MKHHHHHHAS SFSYEPYYST SYKRRYVETP RVHISSVRSG YSTARSAYSS YSAPVSSSLS VRRSYSSSSG SLMPSLENLD LSQVAAISND LKSIRTQEKA QLQDLNDRFA SFIERVHELE QQNKVLEAEL LVLRQKHSEP SRFRALYEQE IRDLRLAAED ATNEKQALQG EREGLEETLR NLQARYEEEV LSREDAEGRL MEARKGADEA ALARAELEKR IDSLMDEISF LKKVHEEEIA ELQAQIQYAQ ISVEMDVTKP DLSAALKDIR AQYEKLAAKN MQNAEEWFKS RFTVLTESAA KNTDAVRAAK DEVSESRRLL KAKTLEIEAC RGMNEALEKQ LQELEDKQNA DISAMQDTIN KLENELRTTK SEMARYLKEY QDLLNVKMAL DIEIAAYRKL LEGEETRLSF TSVGSITSGY SQSSQVFGRS AYGGLQTSSY LMSTRSFPSY YTSHVQEEQI EVEETIEAAK AEEAKDEPPS EGEAEEEEKD KEEAEEEEAA EEEEAAKEES EEAKEEEEGG EGEEGEETKE AEEEEKKVEG AGEEQAAKKK D |
NEFL or Neurofilament light polypeptide is a protein that is encoded through the NEFL gene. NEFL is correlated to a disease called Charcot�Marie�Tooth. The protein�s light subunit is determined by immunoassays in the plasma and cerebrospinal fluid, if present, it can indicate on axonal damage in neurological diseases. By doing so, NEFL can act as a marker for Huntington's disease, Amyotrophic Lateral Sclerosis and multiple sclerosis.
NEFL Human Recombinant produced in E.Coli is a single, non-glycosylated, polypeptide chain (2-543 a.a) containing 551 amino acids including a 9 a.a N-terminal His tag. The total molecular mass is 62.5kDa (calculated).
| UniProt Protein Function: | NFL: one of the three (L, M, and H) intermediate filament proteins that form neurofilaments. Neurofilaments are involved in the maintenance of neuronal caliber. NF-L is the most abundant of the three neurofilament proteins. Defects cause Charcot-Marie-Tooth disease type 1F (CMT1F). |
| UniProt Protein Details: | Protein type:Cytoskeletal Chromosomal Location of Human Ortholog: 8p21 Cellular Component: TSC1-TSC2 complex; growth cone; axon; cytoplasm; neurofilament; cytosol Molecular Function:protein C-terminus binding; protein binding, bridging; identical protein binding; protein domain specific binding; protein binding; phospholipase binding; structural constituent of cytoskeleton Biological Process: protein polymerization; response to peptide hormone stimulus; neurofilament bundle assembly; response to toxin; intermediate filament organization; microtubule cytoskeleton organization and biogenesis; retrograde axon cargo transport; axon regeneration in the peripheral nervous system; synaptic transmission; axon transport of mitochondrion; regulation of axon diameter; positive regulation of axonogenesis; negative regulation of neuron apoptosis; anterograde axon cargo transport; neuromuscular process controlling balance; locomotion; neurite morphogenesis; response to corticosterone stimulus Disease: Charcot-marie-tooth Disease, Axonal, Type 2e; Charcot-marie-tooth Disease, Demyelinating, Type 1f |
| NCBI Summary: | 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] |
| UniProt Code: | P07196 |
| NCBI GenInfo Identifier: | 62511894 |
| NCBI Gene ID: | 4747 |
| NCBI Accession: | P07196.3 |
| UniProt Related Accession: | P07196 |
| Molecular Weight: | |
| NCBI Full Name: | Neurofilament light polypeptide |
| NCBI Synonym Full Names: | neurofilament light |
| NCBI Official Symbol: | NEFL�� |
| NCBI Official Synonym Symbols: | NFL; NF-L; NF68; CMT1F; CMT2E; CMTDIG; PPP1R110�� |
| NCBI Protein Information: | neurofilament light polypeptide |
| UniProt Protein Name: | Neurofilament light polypeptide |
| UniProt Synonym Protein Names: | 68 kDa neurofilament protein; Neurofilament triplet L protein |
| Protein Family: | Neurofilament heavy polypeptide |
| UniProt Gene Name: | NEFL�� |
| UniProt Entry Name: | NFL_HUMAN |
