Primary Identifier | MGI:106403 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 27965 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable CD4 receptor binding activity. Acts upstream of or within several processes, including epidermal growth factor receptor signaling pathway; neuron development; and response to epidermal growth factor. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in cytosol and trans-Golgi network transport vesicle. Is expressed in extraembryonic component; head mesenchyme; tongue; and vertebral axis musculature. Used to study Mast syndrome. Human ortholog(s) of this gene implicated in Mast syndrome and hereditary spastic paraplegia. Orthologous to human SPG21 (SPG21 abhydrolase domain containing, maspardin). PHENOTYPE: Mice homozygous for a null allele exhibit impaired coordination, dragging of the hind limbs, attenuated growth and maturation of cortical neurons and abnormal cortical neuron axonal branching. [provided by MGI curators] |