| Primary Identifier | MGI:98385 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 20739 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin filament binding activity. Acts upstream of or within several processes, including lymphocyte homeostasis; porphyrin-containing compound biosynthetic process; and positive regulation of T cell proliferation. Located in cuticular plate; membrane; and spectrin-associated cytoskeleton. Part of spectrin. Is expressed in liver; liver left lobe; liver right lobe; and utricle. Used to study hereditary spherocytosis type 1; hereditary spherocytosis type 3; and sickle cell anemia. Human ortholog(s) of this gene implicated in hereditary spherocytosis and hereditary spherocytosis type 3. Orthologous to human SPTA1 (spectrin alpha, erythrocytic 1). PHENOTYPE: Homozygotes for spontaneous mutations exhibit microcytic, hypochromic, hemolytic anemia, jaundice, and high neonatal mortality. Heterozygotes of some alleles may exhibit a mild spherocytic transition. [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
