Entity Details

Primary name SPAG1
Entity type gene
Source Source Link

Details

PrimaryID6674
RefseqGeneNG_033834
SymbolSPAG1
Namesperm associated antigen 1
Chromosome8
Location8q22.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-24
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSPAG1_HUMAN

GO terms

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GOName
GO:0005525 GTP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0007338 single fertilization
GO:0016787 hydrolase activity
GO:0070286 axonemal dynein complex assembly

Diseases

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Disease IDSourceNameDescription
615505 OMIMCiliary dyskinesia, primary, 28 (CILD28)A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry.