TXNDC3
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| NME/NM23 family member 8 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | NME8; CILD6; NM23-H8; SPTRX2; TXNDC3; sptrx-2 | ||||||||||||
| External IDs | OMIM: 607421 MGI: 1920662 HomoloGene: 9593 GeneCards: NME8 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 51314 | 73412 | |||||||||||
| Ensembl | ENSG00000086288 | ENSMUSG00000041138 | |||||||||||
| UniProt | Q8N427 | Q715T0 | |||||||||||
| RefSeq (mRNA) | NM_016616 | NM_001167909 | |||||||||||
| RefSeq (protein) | NP_057700 | NP_001161381 | |||||||||||
| Location (UCSC) | Chr 7: 37.89 – 37.94 Mb | Chr 13: 19.65 – 19.7 Mb | |||||||||||
| PubMed search | |||||||||||||
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 TXNDC3 gene.[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]
References
- ↑ 1.0 1.1 "Entrez Gene: thioredoxin domain containing 3 (spermatozoa)".
- ↑ Sadek CM, Damdimopoulos AE, Pelto-Huikko M, Gustafsson JA, Spyrou G, Miranda-Vizuete A (December 2001). "Sptrx-2, a fusion protein composed of one thioredoxin and three tandemly repeated NDP-kinase domains is expressed in human testis germ cells". Genes Cells 6 (12): 1077–90. doi:10.1046/j.1365-2443.2001.00484.x. PMID 11737268.
- ↑ Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S (February 2007). "A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia". Proc. Natl. Acad. Sci. U.S.A. 104 (9): 3336–41. doi:10.1073/pnas.0611405104. PMC 1805560. PMID 17360648.
Further reading
- Shi D, Nakamura T, Nakajima M, et al. (2008). "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.". Arthritis Res. Ther. 10 (3): R54. doi:10.1186/ar2423. PMID 18471322.
- Loughlin J, Meulenbelt I, Min J, et al. (2007). "Genetic association analysis of RHOB and TXNDC3 in osteoarthritis.". Am. J. Hum. Genet. 80 (2): 383–6; author reply 386–7. doi:10.1086/511443. PMID 17304710.
- Rose JE, Behm FM, Drgon T, et al.. "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.". Mol. Med. 16 (7-8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
- 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.
- Padma P, Hozumi A, Ogawa K, Inaba K (2001). "Molecular cloning and characterization of a thioredoxin/nucleoside diphosphate kinase related dynein intermediate chain from the ascidian, Ciona intestinalis.". Gene 275 (1): 177–83. doi:10.1016/S0378-1119(01)00661-8. PMID 11574167.
- Zintzaras E, Kitsios GD, Ziogas DC, et al. (2010). "Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system.". Am. J. Epidemiol. 171 (8): 851–8. doi:10.1093/aje/kwq016. PMID 20237151.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Lacombe ML, Milon L, Munier A, et al. (2000). "The human Nm23/nucleoside diphosphate kinases.". J. Bioenerg. Biomembr. 32 (3): 247–58. doi:10.1023/A:1005584929050. PMID 11768308.
- Mahr S, Burmester GR, Hilke D, et al. (2006). "Cis- and trans-acting gene regulation is associated with osteoarthritis.". Am. J. Hum. Genet. 78 (5): 793–803. doi:10.1086/503849. PMID 16642435.
- Desvignes T, Pontarotti P, Fauvel C, Bobe J (2009). "Nme protein family evolutionary history, a vertebrate perspective.". BMC Evol. Biol. 9: 256. doi:10.1186/1471-2148-9-256. PMC 2777172. PMID 19852809.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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