FRIL_HUMAN
Source:
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
FTL
Protein names and data:
FRIL_HUMAN
, Ferritin light chain; Ferritin L subunit
Lenght: 175 a.a.
Mass: 20020 Da
fasta formatted sequence
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 (By similarity).
Disease:
( OMIM:
134790
600886
606159
)
Hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:600886]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Neurodegeneration with brain iron accumulation 3 (NBIA3) [MIM:606159]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
96 - 96
A -> T (in NBIA3). VAR_026633
Database cross-references
UniProt:
P02792
Ensembl:
ENST00000331825
MIM:
134790
MIM:
600886
MIM:
606159
neXtProt:
NX_P02792
Antibodypedia:
P02792
(may not find the protein thus also not any antibody)
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