NME8

NME8
Identifiers
AliasesNME8, CILD6, NM23-H8, SPTRX2, TXNDC3, sptrx-2, HEL-S-99, NME/NM23 family member 8
External IDsMGI: 1920662 HomoloGene: 9593 GeneCards: NME8
Gene location (Human)
Chr.Chromosome 7 (human)[1]
BandNo data availableStart37,848,597 bp[1]
End37,900,401 bp[1]
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 7: 19.65 – 19.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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.[5]

Clinical significance

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000086288 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041138 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "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. PMID 11737268. doi:10.1046/j.1365-2443.2001.00484.x.
  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. PMC 1805560 Freely accessible. PMID 17360648. doi:10.1073/pnas.0611405104.

Further reading

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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.