View source for NME8

{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
'''Thioredoxin domain-containing protein 3''' (TXNDC3), also known as '''spermatid-specific thioredoxin-2''' (Sptrx-2), is a [[protein]] that in humans is encoded by the '''NME8''' [[gene]] (also known as the ''TXNDC3'' gene) on [[chromosome 7]].<ref name="entrez">{{cite web | title = NME8 NME/NM23 family member 8 [Homo sapiens (human)] | url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=51314| access-date =3 June 2015 }}</ref><ref name="pmid11737268">{{cite journal | vauthors = Sadek CM, Damdimopoulos AE, Pelto-Huikko M, Gustafsson JA, Spyrou G, Miranda-Vizuete A | title = Sptrx-2, a fusion protein composed of one thioredoxin and three tandemly repeated NDP-kinase domains is expressed in human testis germ cells | journal = Genes to Cells | volume = 6 | issue = 12 | pages = 1077–90 | date = Dec 2001 | pmid = 11737268 | doi = 10.1046/j.1365-2443.2001.00484.x | hdl = 10261/47418 | s2cid = 20869820 | hdl-access = free }}</ref>
== Function ==
This gene encodes a protein with an [[N-terminus|N-terminal]] [[thioredoxin domain]] and three [[C-terminus|C-terminal]] nucleoside diphosphate kinase ([[nucleoside diphosphate kinase|NDK]]) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer [[dynein]] arms, and the protein is implicated in [[cilium|ciliary]] function.<ref name="entrez"/>
== Clinical significance ==
Mutations in the ''TXNDC3'' gene are associated with [[primary ciliary dyskinesia]].<ref name="pmid17360648">{{cite journal | vauthors = Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S | title = A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 104 | issue = 9 | pages = 3336–41 | date = Feb 2007 | pmid = 17360648 | pmc = 1805560 | doi = 10.1073/pnas.0611405104 | bibcode = 2007PNAS..104.3336D | doi-access = free }}</ref>
== References ==
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== Further reading ==
{{refbegin | 2}}
* {{cite journal | vauthors = Shi D, Nakamura T, Nakajima M, Dai J, Qin J, Ni H, Xu Y, Yao C, Wei J, Liu B, Ikegawa S, Jiang Q | title = Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysis | journal = [[Arthritis Research & Therapy]] | volume = 10 | issue = 3 | pages = R54 | year = 2008 | pmid = 18471322 | pmc = 2483443 | doi = 10.1186/ar2423 | doi-access = free }}
* {{cite journal | vauthors = Loughlin J, Meulenbelt I, Min J, Mustafa Z, [[Janet Sinsheimer|Sinsheimer JS]], Carr A, Slagboom PE | title = Genetic association analysis of RHOB and TXNDC3 in osteoarthritis | journal = American Journal of Human Genetics | volume = 80 | issue = 2 | pages = 383–6; author reply 386–7 | date = Feb 2007 | pmid = 17304710 | pmc = 1785353 | doi = 10.1086/511443 }}
* {{cite journal | vauthors = Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR | title = Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score | journal = Molecular Medicine | volume = 16 | issue = 7–8 | pages = 247–53 | pmid = 20379614 | pmc = 2896464 | doi = 10.2119/molmed.2009.00159 | year = 2010 }}
* {{cite journal | vauthors = Padma P, Hozumi A, Ogawa K, Inaba K | title = Molecular cloning and characterization of a thioredoxin/nucleoside diphosphate kinase related dynein intermediate chain from the ascidian, Ciona intestinalis | journal = Gene | volume = 275 | issue = 1 | pages = 177–83 | date = Sep 2001 | pmid = 11574167 | doi = 10.1016/S0378-1119(01)00661-8 }}
* {{cite journal | vauthors = Zintzaras E, Kitsios GD, Ziogas DC, Rodopoulou P, Karachalios T | title = Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system | journal = American Journal of Epidemiology | volume = 171 | issue = 8 | pages = 851–8 | date = Apr 2010 | pmid = 20237151 | doi = 10.1093/aje/kwq016 | doi-access = free }}
* {{cite journal | vauthors = Lacombe ML, Milon L, Munier A, Mehus JG, Lambeth DO | title = The human Nm23/nucleoside diphosphate kinases | journal = Journal of Bioenergetics and Biomembranes | volume = 32 | issue = 3 | pages = 247–58 | date = Jun 2000 | pmid = 11768308 | doi = 10.1023/A:1005584929050 | s2cid = 20588606 }}
* {{cite journal | vauthors = Mahr S, Burmester GR, Hilke D, Göbel U, Grützkau A, Häupl T, Hauschild M, Koczan D, Krenn V, Neidel J, Perka C, Radbruch A, Thiesen HJ, Müller B | title = Cis- and trans-acting gene regulation is associated with osteoarthritis | journal = American Journal of Human Genetics | volume = 78 | issue = 5 | pages = 793–803 | date = May 2006 | pmid = 16642435 | pmc = 1474041 | doi = 10.1086/503849 }}
* {{cite journal | vauthors = Desvignes T, Pontarotti P, Fauvel C, Bobe J | title = Nme protein family evolutionary history, a vertebrate perspective | journal = BMC Evolutionary Biology | volume = 9 | pages = 256 | year = 2009 | issue = 1 | pmid = 19852809 | pmc = 2777172 | doi = 10.1186/1471-2148-9-256 | bibcode = 2009BMCEE...9..256D | doi-access = free }}
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== External links ==
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pcd  GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia]
{{NLM content}}
{{Ciliary proteins}}
{{gene-7-stub}}