SPAG17, Official Symbol SPAG17provided by HGNC Official Full Name sperm associated antigen 17provided by HGNC Primary source HGNC:HGNC:26620 See related Ensembl:ENSG00000155761 MIM:616554; AllianceGenome:HGNC:26620 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PF6; CT143; SPGF55 Summary 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] Expression Biased expression in testis (RPKM 9.4), esophagus (RPKM 2.4) and 3 other tissues See more Orthologs mouse all