| Primary Identifier | MGI:2142810 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 227399 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables diphosphoinositol-pentakisphosphate kinase activity and inositol hexakisphosphate kinase activity. Predicted to be involved in inositol metabolic process and inositol phosphate biosynthetic process. Predicted to act upstream of or within phosphorylation and sensory perception of sound. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; salivary gland primordium; and sensory organ. Used to study nonsyndromic deafness. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 100. Orthologous to human PPIP5K2 (diphosphoinositol pentakisphosphate kinase 2). PHENOTYPE: Mice homozygous or heterozygous for a targeted deletion of the phosphatase domain exhibit progressive hearing loss with increased auditory-evoked brainstem response (ABR) thresholds and cochlear outer hair cell degeneration. [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
