| Primary Identifier | MGI:1859606 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 54636 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phosphatidylinositol-3,5-bisphosphate binding activity; phosphatidylinositol-3-phosphate binding activity; and protein kinase binding activity. Predicted to be involved in several processes, including autophagy of mitochondrion; macroautophagy; and positive regulation of autophagosome assembly. Predicted to be located in phagophore assembly site. Predicted to be active in cytosol and phagophore assembly site membrane. Is expressed in several structures, including adrenal gland; brain; early embryo; genitourinary system; and pancreas. Used to study neurodegeneration with brain iron accumulation 5. Human ortholog(s) of this gene implicated in neurodegeneration with brain iron accumulation 5. Orthologous to human WDR45 (WD repeat domain 45). PHENOTYPE: Mice homozygous for a conditional allele activated in neurons exhibit impaired autophagy, axonal swelling and degeneration and impaired learning and memory function. [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
