Entity Details

Primary name WDR73
Entity type gene
Source Source Link

Details

PrimaryID84942
RefseqGeneNG_042034
SymbolWDR73
NameWD repeat domain 73
Chromosome15
Location15q25.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsWDR73_HUMAN

GO terms

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GOName
GO:0000922 spindle pole
GO:0005829 cytosol
GO:0006997 nucleus organization
GO:0031122 cytoplasmic microtubule organization
GO:0032154 cleavage furrow
GO:0043066 negative regulation of apoptotic process

Diseases

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Disease IDSourceNameDescription
251300 OMIMGalloway-Mowat syndrome 1 (GAMOS1)A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Patients may die in early childhood. GAMOS1 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.