KO Validated Antibodies 1
Anti-FTL Antibody (CAB18051)[KO Validated]
- SKU:
- CAB18051
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-FTL Antibody [KO Validated] |
Antibody SKU: | CAB18051 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IHC IF |
Reactivity: | Human, Mouse |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-175 of human FTL (NP_000137.2). |
Application: | WB IHC IF |
Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:10 - 1:100 |
Reactivity: | Human, Mouse |
Positive Samples: | 293T |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-175 of human FTL (NP_000137.2). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MSSQ IRQN YSTD VEAA VNSL VNLY LQAS YTYL SLGF YFDR DDVA LEGV SHFF RELA EEKR EGYE RLLK MQNQ RGGR ALFQ DIKK PAED EWGK TPDA MKAA MALE KKLN QALL DLHA LGSA RTDP HLCD FLET HFLD EEVK LIKK MGDH LTNL HRLG GPEA GLGE YLFE RLTL KHD |
Gene ID: | 2512 |
Uniprot: | P02792 |
Cellular Location: | |
Calculated MW: | 20kDa |
Observed MW: | 18kDa |
Synonyms: | FTL, LFTD, NBIA3 |
Background: | This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. |
UniProt Protein Function: | FTL: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney. Defects in FTL are the cause of hereditary hyperferritinemia-cataract syndrome (HHCS). It is an autosomal dominant disease characterized by early-onset bilateral cataract. Affected patients have elevated level of circulating ferritin. HHCS is caused by mutations in the iron responsive element (IRE) of the FTL gene. Defects in FTL are the cause of neurodegeneration with brain iron accumulation type 3 (NBIA3); also known as adult-onset basal ganglia disease. It is a movement disorder with heterogeneous presentations starting in the fourth to sixth decade. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels. Belongs to the ferritin family. |
UniProt Protein Details: | Protein type:Oxidoreductase Chromosomal Location of Human Ortholog: 19q13.33 Cellular Component: ferritin complex; membrane; cytosol Molecular Function:identical protein binding; protein binding; ferric iron binding; iron ion binding Biological Process: receptor-mediated endocytosis; iron ion homeostasis; cellular iron ion homeostasis; post-Golgi vesicle-mediated transport; iron ion transport; transmembrane transport Disease: Hyperferritinemia With Or Without Cataract; L-ferritin Deficiency; Neurodegeneration With Brain Iron Accumulation 3 |
NCBI Summary: | This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] |
UniProt Code: | P02792 |
NCBI GenInfo Identifier: | 120523 |
NCBI Gene ID: | 2512 |
NCBI Accession: | P02792.2 |
UniProt Secondary Accession: | P02792,Q6IBT7, Q7Z2W1, Q86WI9, Q8WU07, Q96AU9, Q96CU0 Q9BTZ8, B2R4B9, |
UniProt Related Accession: | P02792 |
Molecular Weight: | 440 kDa |
NCBI Full Name: | Ferritin light chain |
NCBI Synonym Full Names: | ferritin, light polypeptide |
NCBI Official Symbol: | FTL |
NCBI Official Synonym Symbols: | LFTD; NBIA3 |
NCBI Protein Information: | ferritin light chain; ferritin L-chain; ferritin L subunit; ferritin light polypeptide-like 3 |
UniProt Protein Name: | Ferritin light chain |
Protein Family: | Ferritin |
UniProt Gene Name: | FTL |
UniProt Entry Name: | FRIL_HUMAN |