The integrator complex assembly factor WDR73 is a protein that in humans is encoded by the geneWDR73. This protein participates in the assembly of the multi-protein complex called the integrator complex, which regulates RNA polymerase II.
Function
The protein WDR73 interacts with two subunits of the integrator complex, INTS9 and INTS11, and helps them bind together to form a heterodimer through stabilization. This blocks the active site of INTS11. BRAT1 then comes and takes WDR73's place at the active site, releasing it, and subsequently importing INTS9 and INTS11 into the cell nucleus.
Structure
Most of this protein consists of 6 WD40 repeat domains. This type of domain is common in scaffold proteins and often participates in protein-protein or protein-RNA interactions.
Medical significance
Pathogenic mutations in WDR73 is associated with a neurodegenerative disorder called type 1 Galloway-Mowat syndrome (GAMOS1). Symptoms can include microcephaly, various forms of brain atrophy, and movement disorders. It is inherited in an autosomal recessive manner.