Entrez 51314 | Ensembl ENSG00000086288 | |
Aliases NME8, CILD6, NM23-H8, SPTRX2, TXNDC3, sptrx-2, HEL-S-99, NME/NM23 family member 8 External IDs MGI: 1920662 HomoloGene: 9593 GeneCards: 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.
Contents
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.
Clinical significance
Mutations in the TXNDC3 gene are associated with primary ciliary dyskinesia.
References
NME8 Wikipedia(Text) CC BY-SA