View source for FBXL4

{{Short description|Protein-coding gene in the species Homo sapiens}}
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{{Infobox_gene}}
'''F-box and leucine-rich repeat protein 4''' is a [[protein]] that in humans is encoded by the FBXL4 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: F-box and leucine-rich repeat protein 4 | url = https://www.ncbi.nlm.nih.gov/gene/26235 }}</ref>
== Structure ==
This gene encodes a member of the [[F-box protein]] family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of [[ubiquitin ligase|ubiquitin protein ligase]] complex called [[SCF complexr|SCFs]] (SKP1-cullin-F-box), which function in [[phosphorylation]]-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing [[WD-40 domain]]s, Fbls containing [[leucine-rich repeat]]s, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least 9 tandem leucine-rich repeats.<ref name="entrez"/>
== Clinical significance ==
Mutations in this gene cause early-onset mitochondrial [[encephalomyopathy]].<ref name="pmid23993194">{{cite journal | vauthors = Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M | title = Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy | journal = American Journal of Human Genetics | volume = 93 | issue = 3 | pages = 482–95 | date = Sep 2013 | pmid = 23993194 | pmc = 3769923 | doi = 10.1016/j.ajhg.2013.07.016 }}</ref><ref>{{cite journal | vauthors = Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW | title = Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance | journal = American Journal of Human Genetics | volume = 93 | issue = 3 | pages = 471–81 | date = Sep 2013 | pmid = 23993193 | pmc = 3769921 | doi = 10.1016/j.ajhg.2013.07.017 }}</ref>
== References ==
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== Further reading ==
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* {{cite journal | vauthors = Ilyin GP, Rialland M, Pigeon C, Guguen-Guillouzo C | title = cDNA cloning and expression analysis of new members of the mammalian F-box protein family | journal = Genomics | volume = 67 | issue = 1 | pages = 40–7 | date = Jul 2000 | pmid = 10945468 | doi = 10.1006/geno.2000.6211 }}
* {{cite journal | vauthors = Cenciarelli C, Chiaur DS, Guardavaccaro D, Parks W, Vidal M, Pagano M | title = Identification of a family of human F-box proteins | journal = Current Biology | volume = 9 | issue = 20 | pages = 1177–9 | date = Oct 1999 | pmid = 10531035 | doi = 10.1016/S0960-9822(00)80020-2 | s2cid = 7467493 | doi-access = free | bibcode = 1999CBio....9.1177C }}
* {{cite journal | vauthors = Winston JT, Koepp DM, Zhu C, Elledge SJ, Harper JW | title = A family of mammalian F-box proteins | journal = Current Biology | volume = 9 | issue = 20 | pages = 1180–2 | date = Oct 1999 | pmid = 10531037 | doi = 10.1016/S0960-9822(00)80021-4 | s2cid = 14341845 | doi-access = free | bibcode = 1999CBio....9.1180W }}
* {{cite journal | vauthors = Van Rechem C, Black JC, Abbas T, Allen A, Rinehart CA, Yuan GC, Dutta A, Whetstine JR | title = The SKP1-Cul1-F-box and leucine-rich repeat protein 4 (SCF-FbxL4) ubiquitin ligase regulates lysine demethylase 4A (KDM4A)/Jumonji domain-containing 2A (JMJD2A) protein | journal = The Journal of Biological Chemistry | volume = 286 | issue = 35 | pages = 30462–70 | date = Sep 2011 | pmid = 21757720 | pmc = 3162406 | doi = 10.1074/jbc.M111.273508 | doi-access = free }}
* {{cite journal | vauthors = Kipreos ET, Pagano M | title = The F-box protein family | journal = Genome Biology | volume = 1 | issue = 5 | pages = REVIEWS3002 | year = 2000 | pmid = 11178263 | pmc = 138887 | doi = 10.1186/gb-2000-1-5-reviews3002 | doi-access = free }}
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