DNAAF4

DNAAF4 is a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene.

Dynein Axonemal Assembly Factor 4

Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity.

Cilium movement Source: UniProtKB
Determination of left/right symmetry Source: UniProtKB
Epithelial cilium movement involved in extracellular fluid movement Source: GO_Central
Heart development Source: GO_Central
Inner dynein arm assembly Source: UniProtKB
Neuron migration Source: UniProtKB
Outer dynein arm assembly Source: UniProtKB
Regulation of intracellular estrogen receptor signaling pathway Source: UniProtKB
Regulation of proteasomal protein catabolic process Source: UniProtKB

Nucleus; Cytoplasm; Dynein axonemal particle; Neuron projection

Dyslexia 1 (DYX1):
Disease susceptibility is associated with variants affecting the gene represented in this entry. A chromosomal aberration involving DNAAF4 has been found in a family affected by dyslexia. Translocation t(2;15)(q11;q21). A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability.
Ciliary dyskinesia, primary, 25 (CILD25):
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.