HFE gene: Structure, function, mutations, and associated iron abnormalities

Gene

Volumn 574, Issue 2, 2015, Pages 179-192

  Barton, James C ^a,b   Edwards, Corwin Q ^c,e   Acton, Ronald T ^a,d,f  

^a SOUTHERN IRON DISORDERS CENTER   (United States)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d University of Alabama at Birmingham   (United States)

^e INTERMOUNTAIN MEDICAL CENTER   (United States)

^f NONE   (United States)

Author keywords

Hemochromatosis; Iron; Major histocompatibility complex; Transferrin receptor

Indexed keywords

BETA 2 MICROGLOBULIN; FERRITIN; HEPCIDIN; HFE PROTEIN; IRON; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; TRANSFERRIN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

ALLELE; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; CHROMOSOME 6P; ERYTHROPOIESIS; ETHNIC DIFFERENCE; EXON; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE INACTIVATION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GEOGRAPHIC DISTRIBUTION; GEOGRAPHY; HEMOCHROMATOSIS; HETEROZYGOSITY; HFE GENE; HOMEOSTASIS; HOMOZYGOSITY; HUMAN; IRON ABSORPTION; IRON METABOLISM; IRON METABOLISM DISORDER; IRON OVERLOAD; IRON TRANSPORT; LIVER CELL; LIVER DISEASE; MAMMAL; MISSENSE MUTATION; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NONHUMAN; PHENOTYPE; POPULATION; PORPHYRIA CUTANEA TARDA; PRIORITY JOURNAL; PROMOTER REGION; REVIEW; SCREENING; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION; WESTERN EUROPEAN; ANIMAL; CHEMISTRY; GENETICS; MOUSE; MUTATION; PHYSIOLOGY; TRANSGENIC MOUSE;

ANIMALS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON METABOLISM DISORDERS; MEMBRANE PROTEINS; MICE; MICE, TRANSGENIC; MUTATION;

EID: 84945901435     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2015.10.009     Document Type: Review

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