From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Leucine-rich repeat-containing protein 50 is a
protein that in humans is encoded by the LRRC50
gene .
[5]
[6]
Function
Leucine-rich repeat-containing protein 50 is
cilium -specific and is required for the stability of the ciliary architecture. It is involved in the regulation of
microtubule -based cilia and actin-based brush border
microvilli .
[5]
Clinical significance
Mutations in the LRRC50 gene are associated with
primary ciliary dyskinesia .
[6]
References
^
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 .
^
a
b
"Entrez Gene: leucine rich repeat containing 50" .
^
a
b 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 .
Further reading
van Rooijen E, Giles RH, Voest EE, et al. (2008).
"LRRC50, a conserved ciliary protein implicated in polycystic kidney disease" . J. Am. Soc. Nephrol . 19 (6): 1128–38.
doi :
10.1681/ASN.2007080917 .
PMC
2396934 .
PMID
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)" . Genome Res . 14 (10B): 2121–7.
doi :
10.1101/gr.2596504 .
PMC
528928 .
PMID
15489334 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004).
"Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5.
doi :
10.1038/ng1285 .
PMID
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" . Genome Res . 16 (1): 55–65.
doi :
10.1101/gr.4039406 .
PMC
1356129 .
PMID
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" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
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" . Am. J. Hum. Genet . 85 (6): 883–9.
doi :
10.1016/j.ajhg.2009.10.018 .
PMC
2795801 .
PMID
19944400 .
External links
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .