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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SPAG17-20-RE | 20 (40 μL) | 200 μL |  |
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| SPAG17-20-OR | 20 (40 μL) | 200 μL |  |
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| SPAG17-20-GO | 20 (40 μL) | 200 μL |  |
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| SPAG17-20-GR | 20 (40 μL) | 200 μL |  |
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| SPAG17-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : SPAG17
Gene Name : Sperm associated antigen 17
Chromosome : CHR 1: 118,185,224-117,953,664
Locus : 1p12
Alt. Genes : PREB
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