SPAG17

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]

Description

Sperm associated antigen 17

Tissue specificity

Tissue enhanced (choroid plexus, testis)

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

1 (117953590 - 118185228)

Ensembl ID

ENSG00000155761  (ver. 103.38)

Orthologs

Mouse Spag17: ENSMUSG00000027867

UniProt

Q6Q759

neXtProt

NX_Q6Q759

Human splice variants
Mouse splice variants

Protein structure