Recombinant Human Dynein heavy chain 5, axonemal (DNAH5), Truncated

Uniprot Id

Q8TE73

Target Species

Human

Target Name

DNAH5

Target Full Name

Dynein axonemal heavy chain 5

Target Function

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.

Target Involvement

Ciliary dyskinesia, primary, 3 (CILD3)

Target Subcellular Location

Cytoplasm, cytoskeleton, cilium axoneme.

Target Protein Families

Dynein heavy chain family

Target Tissue Specificity

Expressed in airway epithelial cells (at protein level). Not detected in spermatozoa (at protein level).

Target Synonyms

axonemal; Axonemal beta dynein heavy chain 5; Ciliary dynein heavy chain 5; DNAH 5; Dnah5; DNAHC5; DYH5_HUMAN; Dynein heavy chain 5; Dynein heavy chain 5; axonemal; HL1; KIAA1603

Target Background

This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects.