PMID:21627978

Citation	Wang, Y, Langer, NB, Shaw, GC, Yang, G, Li, L, Kaplan, J, Paw, BH and Bloomer, JR (2011) Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria. Exp. Hematol. 39:784-94
Abstract	Most patients with erythropoietic protoporphyria have deficient ferrochelatase (FECH) activity due to changes in FECH DNA. We evaluated seven patients with erythropoietic protoporphyria phenotype in whom abnormalities of FECH DNA were not found by conventional analysis. The major focus was mitoferrin-1 (MFRN1), the mitochondrial transporter of Fe used for heme formation by FECH and for 2Fe2S cluster synthesis, which is critical to FECH activity/stability.
Links	PubMed PMC3143264 Online version:10.1016/j.exphem.2011.05.003
Keywords	5-Aminolevulinate Synthetase/genetics; 5-Aminolevulinate Synthetase/metabolism; Adolescent; Adult; Aged; Animals; Base Sequence; COS Cells; Cation Transport Proteins/genetics; Cation Transport Proteins/metabolism; Cercopithecus aethiops; Child; Embryo, Nonmammalian/embryology; Embryo, Nonmammalian/metabolism; Female; Ferrochelatase/genetics; Ferrochelatase/metabolism; Gene Expression; Genetic Complementation Test; Humans; K562 Cells; Male; Middle Aged; Mitochondrial Proteins/genetics; Mitochondrial Proteins/metabolism; Molecular Sequence Data; Mutation; Protoporphyria, Erythropoietic/genetics; Protoporphyria, Erythropoietic/metabolism; Protoporphyria, Erythropoietic/pathology; RNA, Messenger/genetics; RNA, Messenger/metabolism; Reverse Transcriptase Polymerase Chain Reaction; Xenopus/embryology; Xenopus/genetics; Yeasts/genetics; Yeasts/growth & development; Young Adult
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Annotations

Gene product	Qualifier	GO Term	Evidence Code	with/from	Aspect	Extension	Notes	Status
DANRE:MFRN1	involved_in	GO:0035162: embryonic hemopoiesis	ECO:0000315: mutant phenotype evidence used in manual assertion	ZFIN:ZDB-GENO-100330-7	P		Seeded From UniProt	complete

References

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