WDR73

Chr 15AR

WD repeat domain 73

Also known as: GAMOS, GAMOS1, HSPC264

NCBI Gene: 84942 ENSG00000177082 OMIM: 616144

WDR73 encodes a cytoplasmic protein that assembles the RNA endonuclease module of the integrator complex by stabilizing the INTS9-INTS11 heterodimer before nuclear import. Biallelic mutations cause Galloway-Mowat syndrome 1, an autosomal recessive disorder affecting the central nervous system and kidneys. The gene shows extreme intolerance to loss-of-function variants (pLI near zero), indicating that heterozygous loss-of-function is likely benign.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.261 OMIM phenotype

Clinical Summary— WDR73

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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