| Primary Identifier | MGI:1351617 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 27410 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ABC-type xenobiotic transporter activity; ATP hydrolysis activity; and phosphatidylcholine transporter activity. Involved in several processes, including glycerophospholipid metabolic process; phospholipid homeostasis; and surfactant homeostasis. Located in alveolar lamellar body membrane. Is expressed in several structures, including genitourinary system; gut; hemolymphoid system; nervous system; and respiratory system. Used to study pulmonary alveolar proteinosis. Human ortholog(s) of this gene implicated in pulmonary alveolar proteinosis. Orthologous to human ABCA3 (ATP binding cassette subfamily A member 3). PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality, respiratory failure, and severely impaired surfactant secretion. [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
