# LRRC50

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Protein-coding gene in the species Homo sapiens

DNAAF1 Identifiers Aliases DNAAF1, CILD13, LRRC50, ODA7, dynein (axonemal) assembly factor 1, dynein axonemal assembly factor 1, swt, DAU1 External IDs OMIM: 613190; MGI: 1915520; HomoloGene: 12256; GeneCards: DNAAF1; OMA:DNAAF1 - orthologs Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q24.1 Start 84,145,287 bp[1] End 84,178,767 bp[1] Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 E1 Start 120,301,974 bp[2] End 120,325,193 bp[2] RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell left testis right testis olfactory zone of nasal mucosa nasal epithelium mucosa of paranasal sinus male germ cell sperm caput epididymis Top expressed in seminiferous tubule spermatid spermatocyte morula ascending aorta jejunum aortic valve blastocyst duodenum pharynx More reference expression data BioGPS n/a Gene ontology Molecular function dynein complex binding Cellular component cell projection spindle pole plasma membrane cilium axoneme cytoskeleton cytoplasm cytosol nuclear speck extracellular region Biological process cilium assembly determination of pancreatic left/right asymmetry outer dynein arm assembly axonemal dynein complex assembly lung development epithelial cilium movement involved in determination of left/right asymmetry determination of digestive tract left/right asymmetry determination of liver left/right asymmetry heart looping cilium movement inner dynein arm assembly left/right pattern formation regulation of cilium beat frequency motile cilium assembly Sources:Amigo / QuickGO Orthologs Species Human Mouse Entrez 123872 68270 Ensembl ENSG00000154099 ENSMUSG00000031831 UniProt Q8NEP3 Q9D2H9 RefSeq (mRNA) NM_178452 NM_001318756 NM_026648 RefSeq (protein) NP_001305685 NP_848547 NP_080924 Location (UCSC) Chr 16: 84.15 – 84.18 Mb Chr 8: 120.3 – 120.33 Mb PubMed search [3] [4] Wikidata View/Edit Human View/Edit Mouse

**Leucine-rich repeat-containing protein 50** is a [protein](/source/Protein) that in humans is encoded by the *LRRC50* [gene](/source/Gene).[5][6]

## Function

Leucine-rich repeat-containing protein 50 is [cilium](/source/Cilium)-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of [microtubule](/source/Microtubule)-based cilia and actin-based brush border [microvilli](/source/Microvilli).[5]

## Clinical significance

Mutations in the LRRC50 gene are associated with [primary ciliary dyskinesia](/source/Primary_ciliary_dyskinesia).[6]

## References

1. ^ [***a***](#cite_ref-refGRCh38Ensembl_1-0) [***b***](#cite_ref-refGRCh38Ensembl_1-1) [***c***](#cite_ref-refGRCh38Ensembl_1-2) [GRCh38: Ensembl release 89: ENSG00000154099](http://May2017.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000154099) – [Ensembl](/source/Ensembl_genome_database_project), May 2017

1. ^ [***a***](#cite_ref-refGRCm38Ensembl_2-0) [***b***](#cite_ref-refGRCm38Ensembl_2-1) [***c***](#cite_ref-refGRCm38Ensembl_2-2) [GRCm38: Ensembl release 89: ENSMUSG00000031831](http://May2017.archive.ensembl.org/Mus_musculus/Gene/Summary?db=core;g=ENSMUSG00000031831) – [Ensembl](/source/Ensembl_genome_database_project), May 2017

1. **[^](#cite_ref-3)** ["Human PubMed Reference:"](https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=123872). *National Center for Biotechnology Information, U.S. National Library of Medicine*.

1. **[^](#cite_ref-4)** ["Mouse PubMed Reference:"](https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=68270). *National Center for Biotechnology Information, U.S. National Library of Medicine*.

1. ^ [***a***](#cite_ref-entrez_5-0) [***b***](#cite_ref-entrez_5-1) ["Entrez Gene: leucine rich repeat containing 50"](https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=123872).

1. ^ [***a***](#cite_ref-pmid19944405_6-0) [***b***](#cite_ref-pmid19944405_6-1) Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, Bastin P, Mitchell DR, Amselem S (December 2009). ["Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790569). *Am. J. Hum. Genet*. **85** (6): 890–6. [doi](/source/Doi_(identifier)):[10.1016/j.ajhg.2009.11.008](https://doi.org/10.1016%2Fj.ajhg.2009.11.008). [PMC](/source/PMC_(identifier)) [2790569](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790569). [PMID](/source/PMID_(identifier)) [19944405](https://pubmed.ncbi.nlm.nih.gov/19944405).

## Further reading

- van Rooijen E, Giles RH, Voest EE, et al. (2008). ["LRRC50, a conserved ciliary protein implicated in polycystic kidney disease"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2396934). *J. Am. Soc. Nephrol*. **19** (6): 1128–38. [doi](/source/Doi_(identifier)):[10.1681/ASN.2007080917](https://doi.org/10.1681%2FASN.2007080917). [PMC](/source/PMC_(identifier)) [2396934](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2396934). [PMID](/source/PMID_(identifier)) [18385425](https://pubmed.ncbi.nlm.nih.gov/18385425).

- Gerhard DS, Wagner L, Feingold EA, et al. (2004). ["The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928). *Genome Res*. **14** (10B): 2121–7. [doi](/source/Doi_(identifier)):[10.1101/gr.2596504](https://doi.org/10.1101%2Fgr.2596504). [PMC](/source/PMC_(identifier)) [528928](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928). [PMID](/source/PMID_(identifier)) [15489334](https://pubmed.ncbi.nlm.nih.gov/15489334).

- Ota T, Suzuki Y, Nishikawa T, et al. (2004). ["Complete sequencing and characterization of 21,243 full-length human cDNAs"](https://doi.org/10.1038%2Fng1285). *Nat. Genet*. **36** (1): 40–5. [doi](/source/Doi_(identifier)):[10.1038/ng1285](https://doi.org/10.1038%2Fng1285). [PMID](/source/PMID_(identifier)) [14702039](https://pubmed.ncbi.nlm.nih.gov/14702039).

- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). ["Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1356129). *Genome Res*. **16** (1): 55–65. [doi](/source/Doi_(identifier)):[10.1101/gr.4039406](https://doi.org/10.1101%2Fgr.4039406). [PMC](/source/PMC_(identifier)) [1356129](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1356129). [PMID](/source/PMID_(identifier)) [16344560](https://pubmed.ncbi.nlm.nih.gov/16344560).

- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). ["Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241). *Proc. Natl. Acad. Sci. U.S.A*. **99** (26): 16899–903. [Bibcode](/source/Bibcode_(identifier)):[2002PNAS...9916899M](https://ui.adsabs.harvard.edu/abs/2002PNAS...9916899M). [doi](/source/Doi_(identifier)):[10.1073/pnas.242603899](https://doi.org/10.1073%2Fpnas.242603899). [PMC](/source/PMC_(identifier)) [139241](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241). [PMID](/source/PMID_(identifier)) [12477932](https://pubmed.ncbi.nlm.nih.gov/12477932).

- Loges NT, Olbrich H, Becker-Heck A, et al. (2009). ["Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795801). *Am. J. Hum. Genet*. **85** (6): 883–9. [doi](/source/Doi_(identifier)):[10.1016/j.ajhg.2009.10.018](https://doi.org/10.1016%2Fj.ajhg.2009.10.018). [PMC](/source/PMC_(identifier)) [2795801](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795801). [PMID](/source/PMID_(identifier)) [19944400](https://pubmed.ncbi.nlm.nih.gov/19944400).

## External links

- [GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia](https://www.ncbi.nlm.nih.gov/books/NBK1122/)

*This article incorporates text from the [United States National Library of Medicine](/source/United_States_National_Library_of_Medicine), which is in the [public domain](/source/Public_domain).*

v t e Ciliary proteins Nephrocystin NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L Basal body BBSome BBS1 BBS2 BBS4 BBS5 BBS7 BBS8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1 Cilia connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67 Dynein outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1 Radial spokes RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B Other cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3 see also: ciliopathy

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