A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA

Biochemical Journal

Volumn 431, Issue 3, 2010, Pages 363-371

  Altamura, Sandro ^a,b   D'Alessio, Flavia ^a,b,c   Selle, Barbara ^d   Muckenthaler, Martina U ^a,b  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b Molecular Medicine Partnership Unit (MMPU)   (Germany)

^c EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^d Helios Klinikum   (Germany)

Author keywords

Haemojuvelin; Hepcidin; Iron refractory iron deficiency anaemia (IRIDA); Matriptase 2; Transmembrane protease serine 6 (TMPRSS6)

Indexed keywords

CHEMICAL ACTIVATION; REFRACTORY MATERIALS; TRANSCRIPTION;

CLINICAL SYMPTOMS; CULTURED CELL; FUNCTIONAL CHARACTERIZATION; HAEMOJUVELIN; HEPCIDIN; MATRIPTASE-2; MRNA EXPRESSION; MUTANT PROTEINS; RECESSIVE DISORDER; SERINE PROTEASE; SUBCELLULAR COMPARTMENTS; TRANSMEMBRANE PROTEASE; TRANSMEMBRANES; WILD TYPES;

AMINO ACIDS;

HEMOJUVELIN; HEPCIDIN; MESSENGER RNA; MUTANT PROTEIN; SERINE PROTEINASE; TRANSMEMBRANE PROTEASE SERINE 6; UNCLASSIFIED DRUG; ANTIMICROBIAL CATIONIC PEPTIDE; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; HAMP PROTEIN, HUMAN; HFE2 PROTEIN, HUMAN; MEMBRANE PROTEIN; PROTEIN BINDING; TMPRSS6 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CELL CULTURE; CHILD; CONTROLLED STUDY; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; IRON DEFICIENCY ANEMIA; MALE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN FUNCTION; SCHOOL CHILD; AMINO ACID SEQUENCE; ANEMIA, IRON-DEFICIENCY; ANIMAL; CHEMICAL STRUCTURE; CHEMISTRY; ENZYME ACTIVATION; ENZYMOLOGY; FEMALE; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHYLOGENY; PRESCHOOL CHILD; PROTEIN TERTIARY STRUCTURE; SEQUENCE ALIGNMENT; TUMOR CELL LINE; URINE;

AMINO ACID SEQUENCE; ANEMIA, IRON-DEFICIENCY; ANIMALS; ANTIMICROBIAL CATIONIC PEPTIDES; BASE SEQUENCE; CELL LINE, TUMOR; CHILD; CHILD, PRESCHOOL; ENZYME ACTIVATION; FEMALE; GENE EXPRESSION REGULATION; GPI-LINKED PROTEINS; HEPCIDINS; HUMANS; MALE; MEMBRANE PROTEINS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHYLOGENY; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; RNA, MESSENGER; SEQUENCE ALIGNMENT; SERINE ENDOPEPTIDASES;

EID: 78049294738     PISSN: 02646021     EISSN: 14708728     Source Type: Journal    
DOI: 10.1042/BJ20100668     Document Type: Article

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