TXNDC3 (NME8) Antibody – Rabbit Polyclonal

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]

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.

Protein type: Kinase, nucleoside diphosphate; Oxidoreductase; Other group; NDK family

Chromosomal Location of Human Ortholog: 7p14.1

Cellular Component: cytoplasm; intracellular

Molecular Function: nucleoside diphosphate kinase activity; ATP binding

Biological Process: GTP biosynthetic process; CTP biosynthetic process; cell redox homeostasis; multicellular organismal development; UTP biosynthetic process; nucleoside diphosphate phosphorylation; spermatogenesis; cell differentiation

Disease: Ciliary Dyskinesia, Primary, 6