LRRC6 gene

leucine rich repeat containing 6

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]

From UniProt:

May play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 19

From UniProt:

Ciliary dyskinesia, primary, 19 (CILD19): 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients 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. [MIM:614935]

Cytogenetic Location: 8q24.22, which is the long (q) arm of chromosome 8 at position 24.22

Molecular Location: base pairs 132,570,419 to 132,685,039 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q24.22, which is the long (q) arm of chromosome 8 at position 24.22
  • CILD19
  • LRTP
  • TSLRP