| Primary Identifier | MGI:107848 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 22153 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable GTP binding activity and calcium ion binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization; mitotic cell cycle; and negative regulation of microtubule polymerization. Predicted to act upstream of or within cell projection organization. Located in several cellular components, including internode region of axon; myelin sheath; and neuronal cell body. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study hypomyelinating leukodystrophy 6. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 6 and torsion dystonia 4. Orthologous to human TUBB4A (tubulin beta 4A class IVa). PHENOTYPE: Mice homozygous for a null allele do not exhibit a phenotype. However, mice with an N414K mutation exhibit ataxia, reduction of myelination, cerebellum atrophy and granule cell neuron 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
