Aliases for SPAG17 Gene
External Ids for SPAG17 Gene
Previous GeneCards Identifiers for SPAG17 Gene
This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]
GeneCards Summary for SPAG17 Gene
SPAG17 (Sperm Associated Antigen 17) is a Protein Coding gene. Diseases associated with SPAG17 include Primary Ciliary Dyskinesia.
UniProtKB/Swiss-Prot for SPAG17 Gene
Component of the central pair apparatus of ciliary axonemes. Plays a critical role in the function and structure of motile cilia. May play a role in endochondral bone formation, most likely because of a function in primary cilia of chondrocytes and osteoblasts.