LRRC50 information

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)
End	84,178,767 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	120,325,193 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; bronchial epithelial cell; ; sperm; ; caput epididymis; ; trachea; ; hypothalamus; ; pituitary gland; ; anterior pituitary; ; left uterine tube; ; right lung;
	Top expressed in
	seminiferous tubule; ; spermatid; ; spermatocyte; ; morula; ; ascending aorta; ; jejunum; ; aortic valve; ; blastocyst; ; duodenum; ; pharynx;
	More reference expression data
	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
	123872
	68270
	ENSG00000154099
	ENSMUSG00000031831
	Q8NEP3
	Q9D2H9
	NM_178452; NM_001318756
	NM_026648
	NP_001305685; NP_848547
	NP_080924
	Wikidata
View/Edit Human	View/Edit Mouse

Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.^[5]^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000154099 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031831 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: leucine rich repeat containing 50".
^ 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". Am. J. Hum. Genet. 85 (6): 890–6. doi:10.1016/j.ajhg.2009.11.008. PMC 2790569. PMID 19944405.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000154099 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031831 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: leucine rich repeat containing 50".

[pmid19944405-6] 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". Am. J. Hum. Genet. 85 (6): 890–6. doi:10.1016/j.ajhg.2009.11.008. PMC 2790569. PMID 19944405.

LRRC50 information

and 5 Related for: LRRC50 information

LRRC50

Primary ciliary dyskinesia

List of genetic disorders

Ciliopathy

List of OMIM disorder codes