| Primary Identifier | MGI:1923824 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 76574 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables long-chain fatty acid transmembrane transporter activity; lysophosphatidylcholine flippase activity; and lysophospholipid:sodium symporter activity. Involved in central nervous system development; lipid transport; and transcytosis. Acts upstream of or within several processes, including photoreceptor cell development; regulation of lipid metabolic process; and retina development in camera-type eye. Located in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 15. Orthologous to human MFSD2A (MFSD2 lysolipid transporter A, lysophospholipid). PHENOTYPE: Homozygotes for a null allele show partial postnatal lethality, reduced body weight, ataxia, and alterations in lipid metabolism and photoreceptor cell development. Homozygotes for a different null allele show a leaky blood-brain barrier and increased CNS-endothelial-cell vesicular transcytosis. [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
