Primary Identifier | MGI:1914481 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 67231 |
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 and small GTPase binding activity. Acts upstream of or within several processes, including acrosome assembly; lens fiber cell morphogenesis; and seminiferous tubule development. Predicted to be located in Golgi membrane; endoplasmic reticulum; and nuclear membrane. Predicted to be active in endoplasmic reticulum membrane. Used to study Warburg micro syndrome 4. Human ortholog(s) of this gene implicated in Warburg micro syndrome 4. Orthologous to human TBC1D20 (TBC1 domain family member 20). PHENOTYPE: Homozygous mutants have bilateral cataracts, small eyes, glossy coats, and are male sterile. [provided by MGI curators] |