Primary Identifier | MGI:1332240 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 15203 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable copper ion binding activity; ferrous iron binding activity; and ferroxidase activity. Acts upstream of or within erythrocyte differentiation. Predicted to be located in basolateral plasma membrane and perinuclear region of cytoplasm. Predicted to be active in plasma membrane. Orthologous to human HEPH (hephaestin). PHENOTYPE: Hemizygous male and homozygous female mutants are small and pale at birth, exhibit a hypochromic anemia which tends to disappear with age. Mutants have impaired iron transport in the placenta and in the gut. [provided by MGI curators] |