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ferritin light chain; ferritin L subunit (FTL)
Function:
- light chain of ferritin
Structure:
- belongs to the ferritin family
- contains 1 ferritin-like diiron domain
Pathology:
- defects in FTL are the cause of hereditary hyperferritinemia-cataract syndrome (mutations in the iron responsive element (IRE) of the FTL gene)
- defects in FTL are the cause of neuroferritinopathy
General
protein subunit
Properties
SIZE: entity length = 175 aa
MW = 20 kD
MOTIF: Ferritin-like diiron {7-156}
MOTIF: active site
SITE: 54-61
Iron [Fe]-binding site
SITE: 54-54
Iron [Fe]-binding site
SITE: 57-57
Iron [Fe]-binding site
SITE: 58-58
Iron [Fe]-binding site
SITE: 61-61
Iron [Fe]-binding site
SITE: 64-64
Database Correlations
OMIM correlations
MORBIDMAP 134790
UniProt P02792
Pfam PF00210
Kegg hsa:2512
References
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FTL
- Wikipedia; ferritin entry
http://en.wikipedia.org/wiki/ferritin
- UniProt :accession P02792
Component-of
ferritin