Primary Identifier | MGI:2443657 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 320244 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables tubulin-glutamic acid ligase activity. Acts upstream of or within fertilization; protein polyglutamylation; and sperm axoneme assembly. Located in 9+0 non-motile cilium and ciliary basal body. Is expressed in brain and early embryo. Human ortholog(s) of this gene implicated in cone-rod dystrophy 19. Orthologous to human TTLL5 (tubulin tyrosine ligase like 5). PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit male infertility associated with abnormal sperm morphology and reduced tubulin polyglutamylation in the spermatozoa. [provided by MGI curators] |