Primary Identifier | MGI:1914296 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 67046 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTPase activator activity; TSC1-TSC2 complex binding activity; and small GTPase binding activity. Involved in activation of GTPase activity and negative regulation of TOR signaling. Predicted to be located in ciliary basal body; cytoplasmic vesicle; and cytosol. Predicted to be part of TSC1-TSC2 complex. Predicted to be active in lysosomal membrane. Is expressed in adrenal medulla; cranial ganglion; and dorsal root ganglion. Orthologous to human TBC1D7 (TBC1 domain family member 7). PHENOTYPE: Mice homozygous for a null allele exhibit reduced neuron specification, increased brain weight, reduced gripe strength, hypoactivity, abnormal gait, and increased lean body mass. [provided by MGI curators] |