Gene: LRRC6

Alternate names for this Gene: CILD19|LRTP|TSLRP|tilB

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.22

Description of this Gene: leucine rich repeat containing 6

Type of Gene: protein-coding

rs11984462 in LRRC6 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs141945265 in LRRC6 gene and CILIARY DYSKINESIA, PRIMARY, 19 PMID 23122589 2012 Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 23527195 2013 LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.

PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

PMID 27637300 2016 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

rs760123202 in LRRC6 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 24307375 2014 Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

rs11984462 in LRRC6 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.