Recombinant Human Ferritin Light Chain protein (ab158473)
Key features and details
- Expression system: Wheat germ
- Purity: > 99% Proprietary Purification
- Tags: GST tag N-Terminus
- Suitable for: ELISA, WB
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Product name
Recombinant Human Ferritin Light Chain protein -
Purity
> 99 % Proprietary Purification. -
Expression system
Wheat germ -
Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
-
Species
Human -
Sequence
MSSQIRQNYSTDVEAAVNSLVNLYLQASYTYLSLGFYFDRDDVALEGVSH FFRELAEEKREGYERLLKMQNQRGGRALFQDIKKPAEDEWGKTPDAMKAA MALEKKLNQALLDLHALGSARTDPHLCDFLETHFLDEEVKLIKKMGDHLT NLHRLGGPEAGLGEYLFERLTLKHD -
Amino acids
1 to 175 -
Tags
GST tag N-Terminus
-
Preparation and Storage
-
Alternative names
- Ferritin L chain
- Ferritin L subunit
- Ferritin light chain
see all -
Function
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. -
Involvement in disease
Defects in FTL are the cause of hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:600886]. 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) [MIM:606159]; 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. -
Sequence similarities
Belongs to the ferritin family.
Contains 1 ferritin-like diiron domain. - Information by UniProt