Gene Symbol | LRRC6 |
Entrez Gene ID | 23639 |
Full Name | leucine rich repeat containing 6 |
Synonyms | CILD19,LRTP,TSLRP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Apr 2016]. |
Disorder MIM: | |
Disorder Html: | Ciliary dyskinesia, primary, 19, 614935 (3) |