NME8 explained

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.^{[1] [2]}

Function

This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal 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 ciliary function.^[1]

Clinical significance

Mutations in the TXNDC3 gene are associated with primary ciliary dyskinesia.^[3]

Further reading

• Shi D, Nakamura T, Nakajima M, Dai J, Qin J, Ni H, Xu Y, Yao C, Wei J, Liu B, Ikegawa S, Jiang Q . 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 . . 10 . 3 . R54 . 2008 . 18471322 . 2483443 . 10.1186/ar2423 . free .
• Loughlin J, Meulenbelt I, Min J, Mustafa Z, Sinsheimer JS, Carr A, Slagboom PE . Genetic association analysis of RHOB and TXNDC3 in osteoarthritis . American Journal of Human Genetics . 80 . 2 . 383–6; author reply 386–7 . Feb 2007 . 17304710 . 1785353 . 10.1086/511443 .
• Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR . Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . Molecular Medicine . 16 . 7–8 . 247–53 . 20379614 . 2896464 . 10.2119/molmed.2009.00159 . 2010 .
• Padma P, Hozumi A, Ogawa K, Inaba K . Molecular cloning and characterization of a thioredoxin/nucleoside diphosphate kinase related dynein intermediate chain from the ascidian, Ciona intestinalis . Gene . 275 . 1 . 177–83 . Sep 2001 . 11574167 . 10.1016/S0378-1119(01)00661-8 .
• Zintzaras E, Kitsios GD, Ziogas DC, Rodopoulou P, Karachalios T . Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system . American Journal of Epidemiology . 171 . 8 . 851–8 . Apr 2010 . 20237151 . 10.1093/aje/kwq016 . free .
• Lacombe ML, Milon L, Munier A, Mehus JG, Lambeth DO . The human Nm23/nucleoside diphosphate kinases . Journal of Bioenergetics and Biomembranes . 32 . 3 . 247–58 . Jun 2000 . 11768308 . 10.1023/A:1005584929050 . 20588606 .
• 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 . Cis- and trans-acting gene regulation is associated with osteoarthritis . American Journal of Human Genetics . 78 . 5 . 793–803 . May 2006 . 16642435 . 1474041 . 10.1086/503849 .
• Desvignes T, Pontarotti P, Fauvel C, Bobe J . Nme protein family evolutionary history, a vertebrate perspective . BMC Evolutionary Biology . 9 . 256 . 2009 . 1 . 19852809 . 2777172 . 10.1186/1471-2148-9-256 . 2009BMCEE...9..256D . free .

External links

• GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia

Notes and References

1. Web site: NME8 NME/NM23 family member 8 [Homo sapiens (human)] ]. 3 June 2015 .
2. Sadek CM, Damdimopoulos AE, Pelto-Huikko M, Gustafsson JA, Spyrou G, Miranda-Vizuete A . Sptrx-2, a fusion protein composed of one thioredoxin and three tandemly repeated NDP-kinase domains is expressed in human testis germ cells . Genes to Cells . 6 . 12 . 1077–90 . Dec 2001 . 11737268 . 10.1046/j.1365-2443.2001.00484.x . 10261/47418 . 20869820 . free .
3. Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S . A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia . Proceedings of the National Academy of Sciences of the United States of America . 104 . 9 . 3336–41 . Feb 2007 . 17360648 . 1805560 . 10.1073/pnas.0611405104 . 2007PNAS..104.3336D . free .