WDR19 : WD repeat domain 19

Description

The WDR19 (WD repeat domain 19) is a protein-coding gene located on chromosome 4.

The WDR19 gene provides instructions for making a protein involved in the formation and maintenance of cilia, which are microscopic, finger-like projections extending from the surface of cells. Cilia play crucial roles in cell signaling and development, contributing to the function of various tissues like the kidneys, liver, and retina. While their involvement in bone development is not fully understood, cilia are essential for proper bone formation. The movement of substances within cilia and similar structures called flagella is called intraflagellar transport, which is crucial for the assembly and maintenance of these cell structures. Cells utilize IFT particles, made up of two groups of proteins (complex A and complex B), to transport materials to and from the tips of cilia. The protein encoded by WDR19 is part of IFT complex A (IFT-A), which carries materials from the tip to the base of cilia during intraflagellar transport. IFT-A is critical for regulating the Sonic Hedgehog signaling pathway, essential for cell growth, maturation, and shaping of various body parts, especially during embryonic development. However, the exact role of this complex in the pathway remains unclear.

WDR19 is a component of the IFT complex A (IFT-A), which is involved in retrograde ciliary transport and the entry of G protein-coupled receptors (GPCRs) into cilia. It plays a crucial role in the assembly and function of cilia. WDR19 is essential for the proper assembly of IFT-A and the transport of GPCRs to cilia. It also associates with the BBSome complex, which is involved in ciliary transport.

WDR19 is also known as ATD5, CED4, CFAP66, DYF-2, FAP66, IFT144, NPHP13, ORF26, Oseg6, PWDMP, SPGF72, SRTD5.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing