Primary Identifier | MGI:1917777 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 70527 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable K63-linked deubiquitinase activity and protein domain specific binding activity. Acts upstream of or within negative regulation of hippocampal neuron apoptotic process and protein deubiquitination. Located in cleavage furrow. Is expressed in several structures, including cardiovascular system; central nervous system; genitourinary system; gut; and respiratory system. Orthologous to human STAMBP (STAM binding protein). PHENOTYPE: Mice homozygous for a knock-out allele die of starvation at weaning exhibiting postnatal growth retardation, limb-clasping, a hypocellular cerebral cortex, and severe loss of hippocampal CA1 neurons accompanied by apoptosis; one-third of mutant mice display blepharoptosis. [provided by MGI curators] |