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TXNDC3 Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds. Defects in NME8 are the cause of primary ciliary dyskinesia type 6 (CILD6). CILD is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Note: This description may include information from UniProtKB.
Protein type: Kinase, nucleoside diphosphate; NDK family; Other group; Oxidoreductase
Chromosomal Location of Human Ortholog: 7p14.1
Cellular Component: cytoplasm
Molecular Function: microtubule binding; nucleoside diphosphate kinase activity
Biological Process: cell differentiation; cell redox homeostasis; CTP biosynthetic process; GTP biosynthetic process; multicellular organism development; nucleoside diphosphate phosphorylation; sperm motility; spermatogenesis; UTP biosynthetic process
Disease: Ciliary Dyskinesia, Primary, 6
Reference #:  Q8N427 (UniProtKB)
Alt. Names/Synonyms: CILD6; NM23-H8; NME8; sperm-specific thioredoxin 2; Spermatid-specific thioredoxin-2; Sptrx-2; SPTRX2; thioredoxin domain containing 3 (spermatozoa); Thioredoxin domain-containing protein 3; TXND3; TXNDC3
Gene Symbols: NME8
Molecular weight: 67,270 Da
Basal Isoelectric point: 4.9  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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