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Protein Coding Gene : Trf transferrin

Primary Identifier  MGI:98821 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  22041
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable iron chaperone activity; iron ion binding activity; and transferrin receptor binding activity. Involved in several processes, including ERK1 and ERK2 cascade; osteoclast differentiation; and positive regulation of bone resorption. Acts upstream of or within iron ion transport and response to bacterium. Located in clathrin-coated pit and cytoplasmic vesicle. Is expressed in several structures, including blood; brain; liver; placenta; and white fat. Used to study atransferrinemia. Human ortholog(s) of this gene implicated in several diseases, including anemia; atransferrinemia; glucose metabolism disease (multiple); iron deficiency anemia; and restless legs syndrome. Orthologous to human TF (transferrin).
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit refractory iron-deficient, hypochromic, microcytic anemia with iron-loading in the liver, pancreas, heart and brain. Mutants usually die by two weeks of age. Heterozygotes show minor increases in iron stores. [provided by MGI curators]
  • synonyms:
  • HP,
  • hypotransferrinemia with hemochromatosis,
  • MGD-MRK-15224,
  • AI266983,
  • Trf,
  • MGI:2143006,
  • transferrin,
  • hpx,
  • MGI:96221,
  • expressed sequence AI266983,
  • MGD-MRK-10926,
  • Tfn

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1 Transgenic Expressors

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Proteins

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Mouse features --> Functions (GO terms)

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Interactions

15 Pathways

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Disease

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