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. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009].
Duriez, Duquesnoy, Escudier, Bridoux, Escalier, Rayet, Marcos, Vojtek, Bercher, Amselem: "A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 104, Issue 9, pp. 3336-41, (2007) (PubMed).
Aliases for TXNDC3/NME8 抗体
NME/NM23 family member 8 (NME8) 抗体 NME/NM23 family member 8 (Nme8) 抗体 1700056P15Rik 抗体 CILD6 抗体 NM23-H8 抗体 sptrx-2 抗体 Sptrx-2 抗体 SPTRX2 抗体 Sptrx2 抗体 TXNDC3 抗体 Txndc3 抗体