DPY19L1
dpy-19 like C-mannosyltransferase 1
Tier: Cilia-Associated Genes
- Ensembl:
- ENSG00000173852
- OMIM:
- 613892
- Synonyms:
- KIAA0877
Phenotypes
- Mouse phenotype:
- male infertility, abnormal kidney morphology, female infertility, small kidney
Subcellular localization
Vesicles
References: PMID:40344050
Function
Mutation in dpy19l1l resulted in idiopathic scoliosis (IS)–like body axis curvature in the absence of muscle or cilia defects. URP2 expression was down-regulated in dpy19l1l−/− mutants(40344050).