Primary Identifier | MGI:96015 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 15122 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including amyloid-beta binding activity; heme binding activity; and oxygen binding activity. Predicted to contribute to haptoglobin binding activity and peroxidase activity. Involved in response to stilbenoid. Acts upstream of or within erythrocyte development; in utero embryonic development; and response to bacterium. Located in myelin sheath. Part of hemoglobin complex. Is expressed in several structures, including blood vessel; early conceptus; hematopoietic system; liver; and visceral pericardium. Human ortholog(s) of this gene implicated in Heinz body anemia; alpha thalassemia; familial erythrocytosis 7; and hemoglobin H disease. Orthologous to human HBA1 (hemoglobin subunit alpha 1) and HBA2 (hemoglobin subunit alpha 2). PHENOTYPE: Homozygotes in which both adult hemoglobin-alpha genes are deleted die late in gestation with symptoms resembling human hydrops fetalis. Allele and strain dependent erythrocyte and hemoglobin anomalies are seen in alpha1 homo- and heterozygous mutants. [provided by MGI curators] |