| Primary Identifier | MGI:1347061 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 26357 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables biotin transmembrane transporter activity; efflux transmembrane transporter activity; and riboflavin transmembrane transporter activity. Involved in biotin transport and riboflavin transport. Located in apical plasma membrane. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and hemolymphoid system. Used to study erythropoietic protoporphyria and hyperuricemia. Human ortholog(s) of this gene implicated in gout; hematologic cancer (multiple); renal cell carcinoma; and toxic encephalopathy. Orthologous to human ABCG2 (ATP binding cassette subfamily G member 2 (JR blood group)). PHENOTYPE: Homozygous null mice exhibit extreme sensitivity to the dietary chlorophyll-catabolite pheophorbide a, resulting in severe phototoxic skin lesions upon light exposure. Mutants show a novel form of protoporphyria, associated with a 10-fold increase in erythrocyte levels of protoporphyrin IX. [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
