| Primary Identifier | MGI:95402 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 13828 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable protein-glutamine gamma-glutamyltransferase activity. Acts upstream of or within several processes, including hemoglobin metabolic process; multicellular organismal-level iron ion homeostasis; and spleen development. Located in cortical cytoskeleton and membrane. Is expressed in several structures, including blood island; cardiovascular system; immune system; liver; and metanephros. Used to study hereditary spherocytosis type 1. Human ortholog(s) of this gene implicated in hereditary spherocytosis and hereditary spherocytosis type 5. Orthologous to human EPB42 (erythrocyte membrane protein band 4.2). PHENOTYPE: Homozygotes for a targeted null mutation exhibit erythrocytic abnormalities including mild spherocytosis, altered ion transport, and dehydration. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
