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PMID:21627978

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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

Significance

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


See also

References

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