| Primary Identifier | MGI:88016 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 109674 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables AMP deaminase activity. Involved in purine ribonucleotide metabolic process. Acts upstream of or within several processes, including IMP biosynthetic process; cholesterol homeostasis; and podocyte development. Predicted to be active in cytosol. Is expressed in several structures, including endocrine gland; genitourinary system; nervous system; and vascular system. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 63 and pontocerebellar hypoplasia type 9. Orthologous to human AMPD2 (adenosine monophosphate deaminase 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit proteinuria, tubules filled with protein casts and podocyte process effacement. [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
