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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®

WDR gene family

Reviewed July 2013

What are the WDR genes?

Genes in the WD repeat domain containing (WDR) gene family, as its name suggests, provide instructions for making proteins that contain regions called WD repeat domains. These proteins vary widely in their structure and function. However, they all have regions (domains) characterized by four or more repeated stretches of about 40 protein building blocks (amino acids). The end of each repeated sequence is defined by a pair of the amino acids tryptophan, abbreviated as W, and aspartic acid, abbreviated as D, from which the sequence gets its name.

The WD repeat domain folds to form a three-dimensional protein structure called a beta propeller. Beta propellers consist of between four and eight blade-like structures arranged in a circle. Beta propellers allow WD proteins to act as a stable platform on which large protein complexes can assemble or disassemble. These protein complexes participate in many different functions in the body, including the cycle of cell division, relaying external signals into the cell (signal transduction), moving substances within cells in small sac-like structures called vesicles (vesicle trafficking), assembling the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move, and many other functions. As a result, mutations in genes in the WDR family can result in many types of disorders affecting numerous organs and systems in the body.

Which genes are included in the WDR gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families ( and their member genes.

Genetics Home Reference summarizes the normal function and health implications of these members of the WDR gene family: AAAS, ATG16L1, CIRH1A, DNAI1, ERCC8, IFT80, IFT122, IFT140, KIF21A, LYST, NBEAL2, PEX7, WDR19, and WDR35.

What conditions are related to genes in the WDR gene family?

Genetics Home Reference includes these conditions related to genes in the WDR gene family:

  • asphyxiating thoracic dystrophy
  • Chediak-Higashi syndrome
  • Cockayne syndrome
  • congenital fibrosis of the extraocular muscles
  • cranioectodermal dysplasia
  • Crohn disease
  • gray platelet syndrome
  • heterotaxy syndrome
  • Mainzer-Saldino syndrome
  • nephronophthisis
  • North American Indian childhood cirrhosis
  • primary ciliary dyskinesia
  • Refsum disease
  • retinitis pigmentosa
  • rhizomelic chondrodysplasia punctata
  • Senior-Løken syndrome
  • triple A syndrome
  • UV-sensitive syndrome

What glossary definitions help with understanding the WDR gene family?

acids ; aspartic acid ; autophagy ; autosomal ; autosomal recessive ; cell ; cell division ; cirrhosis ; cytoskeleton ; domain ; gene ; protein ; recessive ; signal transduction ; transduction ; tryptophan ; vesicle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


These sources were used to develop the Genetics Home Reference summary for the WDR gene family.

  • Smith TF, Gaitatzes C, Saxena K, Neer EJ. The WD repeat: a common architecture for diverse functions. Trends Biochem Sci. 1999 May;24(5):181-5. Review. (
  • Li D, Roberts R. WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases. Cell Mol Life Sci. 2001 Dec;58(14):2085-97. Review. (
  • Hudson AM, Cooley L. Phylogenetic, structural and functional relationships between WD- and Kelch-repeat proteins. Subcell Biochem. 2008;48:6-19. doi: 10.1007/978-0-387-09595-0_2. Review. (
  • Marie Curie Bioscience Database (2000): Diversity of WD-Repeat Proteins (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: July 2013
Published: February 8, 2016