| Primary Identifier | MGI:1932286 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 112405 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable enzyme binding activity; ferrous iron binding activity; and hypoxia-inducible factor-proline dioxygenase activity. Involved in several processes, including positive regulation of transcription by RNA polymerase II; regulation of modification of postsynaptic structure; and regulation protein catabolic process at postsynapse. Acts upstream of or within heart morphogenesis and labyrinthine layer development. Is active in glutamatergic synapse and postsynaptic density. Is expressed in central nervous system; genitourinary system; and trunk. Human ortholog(s) of this gene implicated in familial erythrocytosis 3; polycythemia; and renal cell carcinoma. Orthologous to human EGLN1 (egl-9 family hypoxia inducible factor 1). PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis with abnormal placental and cardiac morphology. Ubiquitous induced conditional null mice display increased angiogenesis, angiectasia, and increased hematopoietic activity. [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
