Entity Details

Primary name LRC56_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IYG6
EntryNameLRC56_HUMAN
FullNameLeucine-rich repeat-containing protein 56
TaxID9606
Evidenceevidence at protein level
Length542
SequenceStatuscomplete
DateCreated2006-04-04
DateModified2021-06-02

Ontological Relatives

GenesLRRC56

GO terms

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GOName
GO:0005929 cilium
GO:0030030 cell projection organization

Subcellular Location

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Subcellular Location
Cell projection

Domains

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DomainNameCategoryType
IPR001611 Leucine-rich repeatRepeatRepeat
IPR032675 Leucine-rich repeat domain superfamilyFamilyHomologous superfamily
IPR040091 Leucine-rich repeat-containing protein 56FamilyFamily

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.