Entity Details

Primary name LRRC56
Entity type gene
Source Source Link

Details

PrimaryID115399
RefseqGene
SymbolLRRC56
Nameleucine rich repeat containing 56
Chromosome11
Location11p15.5
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-10-04
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLRC56_HUMAN

GO terms

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GOName
GO:0005929 cilium
GO:0030030 cell projection organization

Diseases

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Disease IDSourceNameDescription
618254 OMIMCiliary dyskinesia, primary, 39 (CILD39)A form of primary ciliary dyskinesia, 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. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD39 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.