Dynein, Axonemal, Assembly Factor 11

Alternative Names

DNAAF11
Leucine-Rich Repeat-Containing Protein 6
LRRC6
Leucine-Rich Testis Protein
LRTP

Length

132,498 bases

No. of Exons

No. of isoforms

Protein Name

Dynein axonemal assembly factor 11

Molecular Mass

54255 Da

Amino Acid Count

466

Genomic Location

chr8:132,570,416-132,702,913

Gene Map Locus

8q24.22

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map

Palestine

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Search:

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_012472.6:c.436G>C	Palestine	NC_000008.11:g.132632957C>G	Likely Pathogenic, Pathogenic	Pathogenic	Ciliary Dyskinesia, Primary, 19	NG_033068.2:g.74956G>C; NM_012472.6:c.436G>C; NP_036604.2:p.Asp146His	200321595	39798

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Contributors

Asha Deepthi: 25.03.2025

Edit History

Asha Deepthi: 25.03.2025

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