TXNDC3

From Wikipedia, the free encyclopedia
Jump to: navigation, search
NME/NM23 family member 8
Identifiers
Symbols NME8 ; CILD6; NM23-H8; SPTRX2; TXNDC3; sptrx-2
External IDs OMIM607421 MGI1920662 HomoloGene9593 GeneCards: NME8 Gene
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 [1] [2]

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[edit]

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[edit]

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

References[edit]

  1. ^ a b "Entrez Gene: thioredoxin domain containing 3 (spermatozoa)". 
  2. ^ 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. 
  3. ^ 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[edit]

External links[edit]


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