Wikipedia

NME8

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.[5][6]

NME8
Identifiers
AliasesNME8, CILD6, NM23-H8, SPTRX2, TXNDC3, sptrx-2, HEL-S-99, NME/NM23 family member 8, DNAI8
External IDsOMIM: 607421; MGI: 1920662; HomoloGene: 9593; GeneCards: NME8; OMA:NME8 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

51314

73412

Ensembl

ENSG00000086288

ENSMUSG00000041138

UniProt

Q8N427

Q715T0

RefSeq (mRNA)

NM_016616

NM_001167909
NM_181591

RefSeq (protein)

NP_057700

NP_001161381
NP_853622

Location (UCSC)Chr 7: 37.85 – 37.9 MbChr 13: 19.83 – 19.88 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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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.[5]

Clinical significance

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Mutations in the TXNDC3 gene are associated with primary ciliary dyskinesia.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000086288 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041138 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "NME8 NME/NM23 family member 8 [Homo sapiens (human)]". Retrieved 3 June 2015.
  6. ^ Sadek CM, Damdimopoulos AE, Pelto-Huikko M, Gustafsson JA, Spyrou G, Miranda-Vizuete A (Dec 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 to Cells. 6 (12): 1077–90. doi:10.1046/j.1365-2443.2001.00484.x. hdl:10261/47418. PMID 11737268. S2CID 20869820.1077-90&rft.date=2001-12&rft_id=info:hdl/10261/47418&rft_id=https://api.semanticscholar.org/CorpusID:20869820#id-name=S2CID&rft_id=info:pmid/11737268&rft_id=info:doi/10.1046/j.1365-2443.2001.00484.x&rft.aulast=Sadek&rft.aufirst=CM&rft.au=Damdimopoulos, AE&rft.au=Pelto-Huikko, M&rft.au=Gustafsson, JA&rft.au=Spyrou, G&rft.au=Miranda-Vizuete, A&rfr_id=info:sid/en.wikipedia.org:NME8" class="Z3988">
  7. ^ Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S (Feb 2007). "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. Bibcode:2007PNAS..104.3336D. doi:10.1073/pnas.0611405104. PMC 1805560. PMID 17360648.3336-41&rft.date=2007-02&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1805560#id-name=PMC&rft_id=info:pmid/17360648&rft_id=info:doi/10.1073/pnas.0611405104&rft_id=info:bibcode/2007PNAS..104.3336D&rft.aulast=Duriez&rft.aufirst=B&rft.au=Duquesnoy, P&rft.au=Escudier, E&rft.au=Bridoux, AM&rft.au=Escalier, D&rft.au=Rayet, I&rft.au=Marcos, E&rft.au=Vojtek, AM&rft.au=Bercher, JF&rft.au=Amselem, S&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1805560&rfr_id=info:sid/en.wikipedia.org:NME8" class="Z3988">

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.



 

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